NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details

X-Linked Spondyloepiphyseal Dysplasia Tarda

Synonyms: SED Tarda, X-Linked; SEDT; X-Linked SED

, MD, PhD and , MS.

Author Information

Initial Posting: ; Last Update: June 11, 2015.

Estimated reading time: 13 minutes


Clinical description.

In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit retarded linear growth beginning around age six to eight years. Final adult height is typically 137-163 cm. Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved but to a variable degree. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared. Motor and cognitive milestones are normal.


The diagnosis of X-linked SEDT, which relies on a combination of clinical and radiographic features, is usually possible in childhood. Adolescent and adult males have disproportionately short stature with a relatively short trunk and barrel-shaped chest. Upper- to lower-body segment ratio is usually about 0.8. Arm span typically exceeds height by 10-20 cm. Characteristic radiographic findings, which typically appear prior to puberty, include: multiple epiphyseal abnormalities; platyspondyly (flattened vertebral bodies) with characteristic superior and inferior "humping" seen on lateral view; narrow disc spaces in adulthood; scoliosis; hypoplastic odontoid process; short femoral necks; coxa vara; and evidence of premature osteoarthritis beginning in young adulthood. TRAPPC2 (SEDL) is the only gene in which pathogenic variants are known to cause X-linked SEDT. Molecular genetic testing reveals a pathogenic variant in TRAPPC2 in more than 80% of males with a clinical diagnosis of X-linked SEDT.


Treatment of manifestations: Surgical intervention may include joint replacement (hip, knee, shoulder) or spine surgery (correction of scoliosis or kyphosis). Standard chronic pain management preceding or following orthopedic surgery is often required.

Surveillance: Annual follow up for assessment of joint pain and scoliosis; cervical spine films prior to school age and before any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia.

Agents/circumstances to avoid: Extreme neck flexion and extension in individuals with odontoid hypoplasia. Activities and occupations that place undue stress on the spine and weight-bearing joints.

Evaluation of relatives at risk: Presymptomatic testing in males at risk may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.

Genetic counseling.

X-linked SEDT is inherited in an X-linked manner. When performed, molecular genetic testing of all mothers of affected sons determined that regardless of family history all were carriers of a pathogenic variant in TRAPPC2. Carrier females are at a 50% risk of transmitting the TRAPPC2 pathogenic variant in each pregnancy: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will not be affected. None of the sons of an affected male will be affected; all daughters will be carriers of the TRAPPC2 pathogenic variant. Carrier testing of at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the pathogenic variant in the family has been identified.


Suggestive Findings

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) should be suspected in males with the following findings:

  • Disproportionate short stature in adolescence or adulthood and a relatively short trunk and barrel-shaped chest. Upper- to lower-body segment ratio is usually about 0.8. Arm span typically exceeds height by 10-20 cm. Short neck, dorsal kyphosis, and lumbar hyperlordosis may be evident by puberty.
  • Early-onset osteoarthritis, especially in the hip joints
  • A family history consistent with X-linked recessive inheritance. A positive family history is contributory but not necessary.
  • Absence of cleft palate and retinal detachment (frequently present in SED congenita; see Differential Diagnosis)

Establishing the Diagnosis

The diagnosis of X-linked SEDT is established in a proband with characteristic radiographic findings or by molecular genetic testing (Table 1) if radiographic findings are inconclusive.

Radiographic Findings

The following radiographic findings may not be manifest in an affected male in early childhood and typically appear prior to puberty (Figure 1):

Figure 1.

Figure 1.

Radiographs of a male age 31 years with SEDT A. Platyspondyly with superior and inferior humping of vertebral bodies

  • Multiple epiphyseal abnormalities
  • Platyspondyly (flattened vertebral bodies) with characteristic superior and inferior "humping" seen on lateral view; narrow disc spaces in adulthood
  • Scoliosis
  • Hypoplastic odontoid process
  • Short femoral necks
  • Coxa vara
  • Evidence of premature osteoarthritis beginning in young adulthood

Radiographs of symptomatic males should be reviewed by a radiologist experienced with bone dysplasias.

Molecular testing approaches can include single-gene testing and a multigene panel.

  • Single-gene testing includes sequence analysis of TRAPPC2 (previously known as SEDL) first, followed by deletion/duplication analysis if no pathogenic variant is found.
  • A multigene panel that includes TRAPPC2 and other genes of interest (see Differential Diagnosis) may also be considered. This method may be especially useful if expert radiographic interpretation is not available. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Table 1.

Molecular Genetic Testing Used in X-linked SEDT

Gene 1Test MethodProportion of Probands with a Pathogenic Variant 2 Detectable by This Method
Affected MalesCarrier Females
TRAPPC2Sequence analysis 380% 480% 5
Gene-targeted deletion/duplication analysis 610% 710%
Unknown 8NA10%10%

See Molecular Genetics for information on allelic variants detected in this gene.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Lack of amplification by PCR prior to sequence analysis can suggest a putative (multi)exon or whole-gene deletion on the X chromosome in affected males; confirmation may require additional testing by deletion/duplication analysis.


Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.


Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


Males initially suspected on sequence analysis of having a deletion in whom the deletion is subsequently confirmed by deletion/duplication analysis


NONE IDENTIFIED TO DATE. It is difficult to determine if negative molecular analysis reflects locus heterogeneity or clinical misdiagnosis; thus percentages are best estimates.

Clinical Characteristics

Clinical Description

Males. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit retarded linear growth beginning around grade school (age 6-8 years). Final adult height is typically 137-163 cm [Whyte et al 1999, Unger et al 2007, Jones et al 2013].

Adults with X-linked SEDT have disproportionately short stature with short trunk and arm span significantly greater than height.

Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved to variable degrees. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared.

Affected males achieve normal motor and cognitive milestones. Life span and intelligence appear normal.

Females. Carrier females typically show no phenotypic changes, but mild symptoms of osteoarthritis have been reported [Whyte et al 1999].

Genotype-Phenotype Correlations

Data are inadequate to reliably correlate clinical severity to a specific TRAPPC2 pathogenic variant. All pathogenic variants identified thus far, irrespective of their molecular basis, result in an almost identical phenotype, including the true null variants.


Spondyloepiphyseal dysplasia is a general term that describes the radiographic abnormalities seen in several skeletal dysplasias, including pseudoachondroplasia. The "congenita" form is evident at birth, whereas the "tarda" form is usually evident by school age.

SED tarda commonly refers to the X-linked recessive form of the disorder, although rare autosomal dominant and autosomal recessive "tarda" forms have been described.


The prevalence is 1:150,000 - 1:200,000 [Wynne-Davies & Gormley 1985].

Pathogenic variants in TRAPPC2 have been found in several ethnic groups including European [Gedeon et al 2001], Japanese [Matsui et al 2001], and Chinese [Shu et al 2002], an observation suggesting that no specific population is at increased risk.

Differential Diagnosis

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is distinguished from other forms of spondyloepiphyseal dysplasia (SED) by its later onset and X-linked inheritance. These other forms of SED include the following:

  • SED congenita, (OMIM 183900); usually evident at birth with disproportionately short stature and diagnostic radiographic changes. Affected individuals often have midline cleft palate and are at risk for hearing loss and high myopia with retinal detachment. SED congenita is the most common form of SED. It is caused by a heterozygous pathogenic variant in COL2A1, the gene encoding type II collagen, and is inherited in an autosomal dominant manner.
  • SED tarda, autosomal forms (rare). A dominant form may be caused by pathogenic variants in COL2A1; a recessive form has been described clinically but not molecularly defined.
  • Progressive pseudorheumatoid arthropathy of childhood, (OMIM 208230); an autosomal recessive disorder with onset between ages three and eight years. Unlike X-linked SEDT, joint swelling and hand involvement are common features of this disorder.
  • Morquio syndrome (mucopolysaccharidosis type IV) is characterized by mild dysostosis multiplex, odontoid hypoplasia, short stature, and cloudy corneas. (See Mucopolysaccharidosis Type IVA and GLB1-Related Disorders.) Morquio syndrome is caused by deficiency in one of two enzymes: N-acetyl-galactosamine-6-sulfatase or beta-galactosidase. It is inherited in an autosomal recessive manner.
  • Autosomal dominant multiple epiphyseal dysplasia (MED) presents early in childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis particularly of the large weight-bearing joints. By definition, the spine is normal, although Schmorl bodies and irregular vertebral end plates may be observed. Pathogenic variants in five genes have been shown to cause dominant MED: COMP, COL9A1, COL9A2, COL9A3, and MATN3.
  • Scheuermann disease, (OMIM 181440) a term applied to premature osteoarthritis of the spine, regardless of the etiology
  • Spondyloperipheral dysplasia, (OMIM 271700) inherited in an autosomal dominant manner; also presents with short hands, feet, and ulnae. One family has been reported with a pathogenic variant in COL2A1.
  • Stickler syndrome. Phenotype is variable and can include: myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Stickler syndrome caused by mutation of COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by mutation of COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT), the following is noted:

  • The radiographic survey necessary for an accurate diagnosis also serves to document the extent of disease at the time of presentation.
  • Individuals with X-linked SEDT need to be assessed for the possibility of clinically significant odontoid hypoplasia.
  • Consultation with a clinical geneticist and/or genetic counselor is appropriate.

Treatment of Manifestations

Surgical intervention may include joint replacement (hip, knee, shoulder) or spine surgery (correction of scoliosis or kyphosis).

Chronic pain management preceding or following orthopedic surgery is standard and often required.

Prevention of Secondary Complications

Cervical spinal films should be obtained prior to any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia.


Affected individuals should be followed annually for the development of joint pain and scoliosis.

Cervical spinal films should be obtained prior to school age to assess for clinically significant odontoid hypoplasia.

Agents/Circumstances to Avoid

The following should be avoided:

  • In individuals with odontoid hypoplasia, extreme neck flexion and extension
  • Activities and occupations that place undue stress on the spine and weight-bearing joints

Evaluation of Relatives at Risk

If the TRAPPC2 pathogenic variant in the family is known, presymptomatic testing of at-risk males allows early diagnosis and may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search in the US and in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is inherited in an X-linked manner.

Risk to Family Members

Parents of a proband

Sibs of a proband

  • The risk to sibs depends on the carrier status of the mother.
  • If the mother of the proband has a TRAPPC2 pathogenic variant, the chance of transmitting the pathogenic variant in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will usually not be affected.
  • If the proband represents a simplex case (i.e., a single occurrence in a family) and if the TRAPPC2 pathogenic variant cannot be detected in the leukocyte DNA of the mother, the risk to sibs is low but greater than that of the general population because of the possibility of maternal germline mosaicism. Although no instances of germline mosaicism have been reported, it remains a possibility.

Offspring of a male proband. Affected males pass the TRAPPC2 pathogenic variant to all of their daughters and none of their sons.

Other family members of a proband. The proband's maternal aunts may be at risk of being carriers and the aunts' offspring, depending on their gender, may be at risk of being carriers or of being affected.

Heterozygote (Carrier) Detection

Identification of female heterozygotes requires:

Note: Carriers are females who are heterozygotes for this X-linked disorder and may possibly develop minimal clinical findings related to the disorder.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Once the TRAPPC2 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for X-linked SEDT are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. While most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • Human Growth Foundation (HGF)
    997 Glen Cove Avenue
    Suite 5
    Glen Head NY 11545
    Phone: 800-451-6434 (toll-free)
    Fax: 516-671-4055
  • Little People of America, Inc. (LPA)
    250 El Camino Real
    Suite 201
    Tustin CA 92780
    Phone: 888-572-2001 (toll-free); 714-368-3689
    Fax: 714-368-3367
  • MAGIC Foundation
    4200 Cantera Drive #106
    Warrenville IL 60555
    Phone: 800-362-4423 (Toll-free Parent Help Line); 630-836-8200
    Fax: 630-836-8181
  • International Skeletal Dysplasia Registry
    615 Charles E. Young Drive
    South Room 410
    Los Angeles CA 90095-7358
    Phone: 310-825-8998
    Fax: 310-206-5266

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
TRAPPC2Xp22​.2Trafficking protein particle complex subunit 2TRAPPC2 databaseTRAPPC2TRAPPC2

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for X-Linked Spondyloepiphyseal Dysplasia Tarda (View All in OMIM)


Gene structure. TRAPPC2 (previously known as SEDL) comprises six exons, with the start site for translation located in exon 3. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. Pathogenic variants in TRAPPC2 causing X-linked SEDT include splice site variants, nonsense variants, deletions, and rare missense variants. Examples include: dinucleotide deletions in exons 3, 4, and 5; tetranucleotide deletion in exon 6; pentanucleotide deletion in exon 5; splice donor site pathogenic variants 3' to exons 3 and 4; splice acceptor site pathogenic variants 5' to exons 2, 3, 4, 5, and 6; nonsense variants in exons 3, 4, 5, and 6; missense variants (detailed in Table 3); and deletions of exons 3, 6, and 4-6. Table 2 summarizes recurrent pathogenic variants.

Note: The exon and multiexon deletions (see also HGMD in Table A) would not be detected in heterozygous females by sequence analysis (see Table 1).

Table 2.

Recurrent Pathogenic Variants in TRAPPC2

% of All Affected IndividualsPathogenic Variant 1
~9%Other recurrent pathogenic variants

Table 3.

Selected TRAPPC2 Pathogenic Variants

DNA Nucleotide Change
(Alias 1)
Predicted Protein ChangeReference Sequences

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.


Variant designation that does not conform to current naming conventions

Normal gene product. TRAPPC2 ("sedlin") encodes a 140-amino acid protein which appears to be ubiquitously expressed [Gedeon et al 1999, Gécz et al 2000]. Sedlin is an essential component of the TRAPP (trafficking protein particle) complex that is required for the export of procollagen trimers (e.g., type II collagen) from the endoplasmic reticulum to the Golgi, which ultimately permits incorporation of these proteins into the extracellular matrix [Venditti et al 2012].

Abnormal gene product. Almost all pathogenic variants identified in TRAPPC2 are predicted to generate a null allele or truncated protein product.


Literature Cited

  • Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE. X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families. Hum Mutat. 2004;24:103. [PubMed: 15221797]
  • Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics. 2000;69:242–51. [PubMed: 11031107]
  • Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet. 1999;22:400–4. [PubMed: 10431248]
  • Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68:1386–97. [PMC free article: PMC1226125] [PubMed: 11349230]
  • Jones KL, Jones MC, del Campo M. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: WB Saunders; 2013.
  • Matsui Y, Yasui N, Ozono K, Yamagata M, Kawabata H, Yoshikawa H. Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family. Am J Med Genet. 2001;99:328–30. [PubMed: 11252002]
  • Savarirayan R, Thompson E, Gecz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). Eur J Hum Genet. 2003;11:639–42. [PubMed: 12939648]
  • Shaw MA, Brunetti-Pierri N, Kadasi L, Kovacova V, Van Maldergem L, De Brasi D, Salerno M, Gecz J. Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4. Clin Genet. 2003;64:235–42. [PubMed: 12919139]
  • Shu SG, Tsai CR, Chi CS. Spondyloepiphyseal dysplasia tarda: report of one case. Acta Paediatr Taiwan. 2002;43:106–8. [PubMed: 12041616]
  • Unger S, Lachman RS, Rimoin DL: Chondrodysplasias. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery & Rimoin’s Principles and Practice of Medical Genetics. 5 ed. New York, NY: Churchill Livingstone; 2007:3709-53.
  • Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA. Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science. 2012;337:1668–72. [PMC free article: PMC3471527] [PubMed: 23019651]
  • Whyte MP, Gottesman GS, Eddy MC, McAlister WH. X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature. Medicine (Baltimore). 1999;78:9–25. [PubMed: 9990351]
  • Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br. 1985;67:133–7. [PubMed: 3155744]

Chapter Notes

Revision History

  • 11 June 2015 (me) Comprehensive update posted live
  • 15 February 2011 (me) Comprehensive update posted live
  • 5 April 2006 (me) Comprehensive update posted live
  • 10 February 2004 (me) Comprehensive update posted live
  • 30 December 2003 (cd) Revision: change in test availability
  • 1 November 2001 (me) Review posted live
  • 16 May 2001 (gt) Original submission
Copyright © 1993-2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source ( and copyright (© 1993-2020 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK1145PMID: 20301324


Tests in GTR by Gene

Related information

  • OMIM
    Related OMIM records
  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed
  • Gene
    Locus Links

Similar articles in PubMed

See reviews...See all...

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...