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Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

Synonyms: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia; LAMM Syndrome

, MS and , MD.

Author Information

Initial Posting: ; Last Update: April 4, 2019.

Estimated reading time: 15 minutes

Summary

Clinical characteristics.

Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is characterized by: profound bilateral congenital sensorineural deafness associated with inner ear anomalies (most often bilateral complete labyrinthine aplasia); microtia (type I) that is typically bilateral (although unilateral microtia and normal external ears are observed on occasion); and microdontia (small teeth). Individuals with LAMM syndrome commonly have motor delays during infancy presumably due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal.

Diagnosis/testing.

The diagnosis of LAMM syndrome is established in a proband by identification of biallelic pathogenic variants in FGF3 on molecular genetic testing.

Management.

Treatment of manifestations: Enrollment in appropriate early-intervention programs and educational programs for the hearing impaired; consideration of vibrotactile hearing devices or brain stem implants for individuals with complete labyrinthine aplasia; consideration of cochlear implantation for those with a cochleovestibular nerve and a cochlear remnant; routine ophthalmologic management of strabismus.

Prevention of secondary complications: Attention to the increased risk for accidents secondary to delayed gross motor development and deafness.

Surveillance: Yearly evaluations with a physician familiar with LAMM syndrome or other forms of hereditary deafness; regular ENT and dental evaluations.

Agents/circumstances to avoid: Individuals with residual cochlear function should avoid noise exposure. Because of the high risk for disorientation when submerged in water, swimming needs to be undertaken with caution.

Evaluation of relatives at risk: It is recommended that sibs have hearing screening to allow early diagnosis and treatment of hearing impairment.

Genetic counseling.

LAMM syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the FGF3 pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk, and preimplantation genetic testing are possible.

Diagnosis

Suggestive Findings

The diagnosis of congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) should be suspected in individuals with the following:

  • Profound congenital sensorineural deafness
  • Severe inner ear anomalies diagnosed by CT scan or MRI of the inner ear. The most common inner ear anomaly is complete labyrinthine aplasia with no recognizable structure in the inner ear (also referred to as Michel aplasia) (Figure 1C).
  • Microtia with shortening of the upper part of the auricles (also referred to as type I microtia) (Figure 1A)
  • Microdontia (small teeth) with widely spaced teeth (Figure 1B)
Figure 1.

Figure 1.

Congenital deafness with labyrinthine aplasia, microtia, and microdontia A. Microtia with anteverted ears

Some individuals may also show gross motor developmental delay during infancy (presumably due to the absence of vestibular system) accompanied by additional features that include:

  • Hypoplasia/dysplasia of middle ear anatomic structures identified by imaging studies;
  • Stenosis of the jugular foramen with enlarged emissary vein identified by imaging studies.

Establishing the Diagnosis

The diagnosis of LAMM syndrome is established in a proband by identification of biallelic pathogenic variants in FGF3 on molecular genetic testing (see Table 1).

Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype.

Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of LAMM syndrome is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of LAMM syndrome has not been considered are more likely to be diagnosed using genomic testing (see Option 2).

Option 1

When the phenotypic and laboratory findings suggest the diagnosis of LAMM syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:

  • Single-gene testing. Sequence analysis of FGF3 detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If only one or no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic deletions or duplications.
  • A multigene panel that includes FGF3 and other genes of interest (see Differential Diagnosis) 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. 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. (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.

Option 2

When the diagnosis of LAMM syndrome is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.

For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Molecular Genetic Testing Used in Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

Gene 1MethodProportion of Pathogenic Variants 2 Detectable by Method
FGF3 Sequence analysis 315 reported 4
Gene-targeted deletion/duplication analysis 53 reported 6
1.
2.

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

3.

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.

4.
5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

Clinical Characteristics

Clinical Description

Labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) was originally described by Tekin et al [2007]. Since then more than 60 individuals with homozygous and compound heterozygous FGF3 pathogenic variants from more than 20 families (consanguineous and nonconsanguineous) have been reported [Sensi et al 2011]. Age at diagnosis is typically age 50 years or younger (range: 1 month to 50 years).

Profound congenital sensorineural deafness is bilateral in all individuals reported to date. Most have bilateral complete labyrinthine aplasia, some have unilateral complete labyrinthine aplasia and visible but severely malformed inner ear structures in the other ear, and a few have some inner ear structure present bilaterally [Tekin et al 2007, Ramsebner et al 2010, Riazuddin et al 2011].

Type I microtia with shortening of auricles above the crura of the antihelix tends to be bilateral in most. Unilateral microtia and bilateral normal external ears have been reported in individuals with the p.Arg95Trp pathogenic variant. Anteverted ears and large skin tags or lobulation of the upper side of the auricle can be seen in some [Tekin et al 2008].

Small teeth have been observed in all reported individuals. Dental anomalies include conical shape and decreased tooth diameter resulting in widely spaced teeth. Loss of tooth height and peg-shaped lateral incisors have been seen. Supernumerary upper lateral incisors and absence of the first premolars have been observed.

Mild micrognathia and excessive caries were noted in one adult.

Hypodontia or dental root anomalies have not been observed [Tekin et al 2007].

Other

  • Motor delays during infancy, presumably the result of impaired balance; commonly seen
  • Stenosis of the jugular foramen with enlarged emissary vein diagnosed by cranial imaging with no clinical manifestations
  • Normal growth and physical development
  • Average or above-average cognition; affected individuals often attend and thrive at schools for the hearing impaired.
  • Absence of limb anomalies and lacrimal findings (seen in some FGFR-related syndromes)

Findings that may be incidental to LAMM syndrome include: mild anatomic defects including unilateral stenosis of the uretero-pelvic junction, ocular abnormalities such as strabismus-hypermetropia; brain anomalies such as pontocerebellar arachnoid cysts; cardiovascular findings such as prominent azygos vein; and mildly distinctive facial features such as long facies, downslanting palpebral fissures, deep-set eyes, high nasal bridge, hypoplastic alae nasi, and mild micrognathia.

Life span is not typically altered in individuals with LAMM syndrome. Healthy adults in their 40s and 50s have been reported [Tekin et al 2007, Alsmadi et al 2009].

Genotype-Phenotype Correlations

The variant p.Arg95Trp is associated with a less severe phenotype than the other FGF3 pathogenic variants [Ramsebner et al 2010, Riazuddin et al 2011].

  • Microtia was not observed in eight of 11 individuals homozygous for p.Arg95Trp; in contrast, none of the persons reported with other pathogenic variants had normal-appearing external ears.
  • Inner ear structures were identified in seven of 20 individuals homozygous for p.Arg95Trp; in contrast, persons reported with other pathogenic variants had either no inner ear components or primitive vesicle-like structures.

Prevalence

LAMM syndrome is very rare; no prevalence estimates have been established. It has been reported in more than 60 individuals from more than 20 unrelated families.

Differential Diagnosis

Table 2.

Other Genes of Interest in the Differential Diagnosis of LAMM Syndrome

Gene(s)DisorderMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/LAMM syndromeDistinguishing from LAMM syndrome
FGF10
FGFR2
FGFR3
Lacrimo-auriculo-dento-digital (LADD) syndrome
(OMIM 149730)
AD
  • Hearing loss
  • Dental anomalies
  • Aplasia, atresia, or hypoplasia of the lacrimal & salivary systems
  • Cup-shaped ears
  • Digital (particularly thumb) anomalies
EYA1
SIX1
SIX5
Branchiootorenal spectrum disorder ADHearing loss
  • Branchial fistulae & cysts
  • Renal malformations
KMT2D
KDM6A
Kabuki syndrome AD
XL
  • Hearing loss
  • Strabismus
  • Skeletal anomalies
  • Typical facial features
  • Dermatoglyphic abnormalities
  • Congenital heart defects
  • Mild-to-moderate intellectual disability
SALL1 Townes-Brocks syndrome AD
  • Microtia
  • Hearing loss
  • Imperforate anus or anal stenosis
  • Typical thumb malformations w/out hypoplasia of the radius

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked; LAMM = labyrinthine aplasia, microtia, and microdontia

Other single-gene disorders or microdeletion/microduplication syndromes should be considered in individuals who have intellectual disability in addition to typical anomalies seen in LAMM syndrome [Dill et al 2011].

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome), the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

System/
Concern
EvaluationComment
ENT CT &/or MRI of the temporal bonesEvaluate inner ear anomalies
Hearing Audiologic evaluationEvaluate for sensorineural hearing loss
Dental Dental evaluationEvaluate for dental anomalies
Renal Consider renal ultrasound.Evaluate for kidney anomalies incl unilateral stenosis of the uretero-pelvic junction
Other Consultation w/clinical geneticist &/or genetic counselor

Treatment of Manifestations

Ideally, the team evaluating and treating a deaf individual should include an otolaryngologist with expertise in the management of early-childhood otologic disorders, an audiologist experienced in the assessment of hearing loss in children, a clinical geneticist, and a pediatrician. The expertise of an educator of the Deaf, a neurologist, and a pediatric ophthalmologist may also be required.

  • Enrollment in appropriate early-intervention programs and educational programs for the hearing impaired is appropriate.
  • An important part of the evaluation is determining the appropriate habilitation option. Possibilities include hearing aids, vibrotactile devices, brain stem implants, and cochlear implantation:
    • Consideration of vibrotactile hearing devices or brain stem implants for individuals with complete labyrinthine aplasia [Riazuddin et al 2011]
    • Evaluation for cochlear implantation in those individuals with a cochleovestibular nerve and a cochlear remnant. Cochlear implantation can be considered in children over age 12 months with severe-to-profound hearing loss.
  • Routine ophthalmologic management of strabismus, if present, is indicated.

Prevention of Secondary Complications

Regardless of its etiology, uncorrected hearing loss has consistent sequelae: Auditory deprivation through age two years is associated with poor reading performance, poor communication skills, and poor speech production. Educational intervention is insufficient to completely remediate these deficiencies.

In contrast, early auditory intervention (whether through amplification or cochlear implantation) is effective (see Hereditary Hearing Loss and Deafness Overview). However, the presence of severe inner ear anomalies and Michel aplasia in individuals with LAMM syndrome limits auditory habilitation options.

Delayed gross motor development (presumably the result of impaired balance and profound deafness) increases the risk for accidents and trauma.

  • The risk for accidents can be addressed in part by use of visual or vibrotactile alarm systems in homes and schools.
  • The risk for pedestrian injury can be reduced by choosing routes with visual displays of crosswalks.
  • Anticipatory education of parents, health providers, and educational programs about hazards can help address the risk for falls [Gaebler-Spira & Thornton 2002, Chakravarthy et al 2007].

Surveillance

Table 4.

Recommended Surveillance for Individuals with Deafness with Congenital Labyrinthine Aplasia, Microtia, and Microdontia

System/ConcernEvaluationFrequency
Deafness ENT evaluationAnnually
Strabismus Ophthalmologic evaluationAnnually
Dental Dental evaluationAs necessary

Yearly evaluations by the multidisciplinary team mentioned in Treatment of Manifestations is appropriate.

Agents/Circumstances to Avoid

Noise exposure is a well-recognized environmental cause of hearing loss. Since this risk can be minimized by avoidance, individuals with LAMM syndrome and a residual cochlea should be counseled appropriately.

Because of the high risk for disorientation when submerged in water, swimming needs to be undertaken with caution.

Evaluation of Relatives at Risk

It is appropriate to clarify the genetic status of apparently asymptomatic sibs of an affected individual by molecular genetic testing for the FGF3 pathogenic variant in the family in order to allow early diagnosis and treatment of hearing impairment. (Note: Affected sibs may have normal-appearing ears.)

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

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for 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, mode(s) of 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; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Congenital deafness with labyrinthine aplasia, microtia, and microdontia (LAMM syndrome) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes (i.e., carriers of one FGF3 pathogenic variant).
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

Offspring of a proband. The offspring of an individual with LAMM syndrome are obligate heterozygotes (carriers) for a pathogenic variant in FGF3.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of an FGF3 pathogenic variant.

Carrier (Heterozygote) Detection

Carrier testing for at-risk relatives requires prior identification of the FGF3 pathogenic variants in the family.

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 Testing

Once the pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing 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.

Resources

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.

  • American Society for Deaf Children
    PO Box 23
    Woodbine MD 21797
    Phone: 800-942-2732 (ASDC)
    Email: info@deafchildren.org
  • BabyHearing.org
    This site, developed with support from the National Institute on Deafness and Other Communication Disorders, provides information about newborn hearing screening and hearing loss.
  • Children's Craniofacial Association (CCA)
    13140 Coit Road
    Suite 517
    Dallas TX 75240
    Phone: 800-535-3643 (toll-free)
    Email: contactCCA@ccakids.com
  • National Association of the Deaf
    8630 Fenton Street
    Suite 820
    Silver Spring MD 20910
    Phone: 301-587-1788 (Purple/ZVRS); 301-328-1443 (Sorenson); 301-338-6380 (Convo)
    Fax: 301-587-1791
    Email: nad.info@nad.org

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.

Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
FGF3 11q13​.3 Fibroblast growth factor 3 FGF3 database FGF3 FGF3

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 Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (View All in OMIM)

164950FIBROBLAST GROWTH FACTOR 3; FGF3
610706DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

Molecular Pathogenesis

Introduction. Fibroblast growth factor (FGF) proteins function in embryonic development, cell growth, morphogenesis, tissue repair, and tumor growth and invasion [Pownall & Isaacs 2010]. They mainly function through three pathways:

  • RAS/MAP kinase pathway (the main pathway)
  • Phosphoinositides 3 kinase/AKT pathway
  • Phospholipase C gamma pathway

Physiologically, FGF3 binds to the FGF receptor (FGFR) 1b and 2b to activate its signaling cascade, thus regulating cellular proliferation, survival, migration, and differentiation [Zelarayan et al 2007]. Along with FGF8 and FGF10, FGF3 plays a crucial role in the embryonic development of the otic placode (which forms the inner ear) and its eventual differentiation into the vestibular and cochlear structures [Vendrell et al 2000, Wright & Mansour 2003, Toriello et al 2004]. Studies in mice and zebrafish have also shown the role of FGF3 in dental morphogenesis [Kettunen et al 2000, Jackman et al 2004].

Mechanism of disease causation. Loss of function; reported FGF3 pathogenic variants include nonsense, frameshift, and missense variants in highly conserved amino acid residues.

Molecular modeling suggests that the p.Arg95Trp pathogenic variant does not impair the interaction of FGF3 with FGFR2b receptors or heparin sulfate binding sites, which may result in residual function of FGF3 [Riazuddin et al 2011].

Table 5.

Notable FGF3 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_005247​.2
NP_005238​.1
c.283C>Tp.Arg95TrpVariant has been associated w/a milder phenotype of LAMM syndrome [Ramsebner et al 2010, Riazuddin et al 2011].

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

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

References

Literature Cited

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  • Basdemirci M, Zamani AG, Sener S, Tassoker M, Cetmili H, Zamani A, Aydogdu D, Basdemirci A, Yildirim MS. LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings. Clin Dysmorphol. 2019;28:81–5. [PubMed: 30433887]
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  • Kettunen P, Laurikkala J, Itäranta P, Vainio S, Itoh N, Thesleff I. Associations of FGF-3 and FGF-10 with signaling networks regulating tooth morphogenesis. Dev Dyn. 2000;219:322–32. [PubMed: 11066089]
  • Pownall ME, Isaacs HV. FGF Signalling in Vertebrate Development. San Rafael, CA: Morgan & Claypool Life Sciences; 2010. [PubMed: 21452439]
  • Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, Cengiz FB, Schoefer C, Tekin M, Frei K. A. FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope. 2010;120:359–64. [PubMed: 19950373]
  • Riazuddin S, Ahmed ZM, Hegde RS, Khan SN, Nasir I, Shaukat U, Riazuddin S, Butman JA, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 2011;12:21. [PMC free article: PMC3042908] [PubMed: 21306635]
  • Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. Am J Med Genet. A. 2011;155A:1096–101. [PubMed: 21480479]
  • Singh A, Tekin M, Falcone M, Kapoor S. Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. Indian Pediatr. 2014;51:919–20. [PubMed: 25432227]
  • Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 2007;80:338–44. [PMC free article: PMC1785350] [PubMed: 17236138]
  • Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioğlu Bayrak A, Sentürk S, Cebeci I, Utine GE, Tunçbilek E, Nance WE, Duman D. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clin Genet. 2008;73:554–65. [PubMed: 18435799]
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Chapter Notes

Acknowledgments

This work was supported by NIH-NIDCD grant R01DC009645 to M.T.

Author Notes

John P Hussman Institute for Human Genomics: Genetic Studies of Deafness

Division of Clinical and Translation Genetics: Deafness Clinic

Revision History

  • 4 April 2019 (sw) Comprehensive update posted live
  • 20 September 2012 (me) Review posted live
  • 9 June 2012 (mt) Original submission
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