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Congenital contractural arachnodactyly(CCA)

MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
Synonyms: Arachnodactyly, contractural Beals type; Arthrogryposis, distal, type 9; Beals syndrome; Beals-Hecht syndrome; CCA; Contractures, multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
SNOMED CT: Beal's syndrome (205821003); Beals syndrome (205821003); CCA - Congenital contractural arachnodactyly (205821003); Congenital contractural arachnodactyly (205821003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FBN2 (5q23.3)
 
Monarch Initiative: MONDO:0007363
OMIM®: 121050
Orphanet: ORPHA115

Disease characteristics

Excerpted from the GeneReview: Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families. [from GeneReviews]
Authors:
Bert Callewaert   view full author information

Additional descriptions

From OMIM
Congenital contractural arachnodactyly is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797).  http://www.omim.org/entry/121050
From MedlinePlus Genetics
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.\n\nA rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.  https://medlineplus.gov/genetics/condition/congenital-contractural-arachnodactyly

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
Patellar subluxation
MedGen UID:
163635
Concept ID:
C0857276
Pathologic Function
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.
Patellar dislocation
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
Displacement of the PATELLA from the femoral groove.
Adducted thumb
MedGen UID:
767531
Concept ID:
C3554617
Finding
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Calf muscle hypoplasia
MedGen UID:
811780
Concept ID:
C3805450
Finding
Underdevelopment of the muscuklature of the calf.
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired.
Mitral regurgitation
MedGen UID:
7670
Concept ID:
C0026266
Finding
Dysfunction of the mitral valve characterized by incomplete valve closure.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.
Bicuspid aortic valve
MedGen UID:
57436
Concept ID:
C0149630
Congenital Abnormality
Bicuspid, or bicommissural, aortic valve (BAV) describes an aortic valve with 2 rather than 3 leaflets (Cripe et al., 2004). In 1 to 2% of the population a bicuspid aortic valve is present. Bicuspid aortic valve is frequently an antecedent to aortic valve stenosis or insufficiency. In extreme cases the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome (241550) (Garg et al., 2005). The valve calcification often observed in bicuspid aortic valve is a result of inappropriate activation of osteoblast-specific gene expression. Mutations in the signaling and transcription regulator NOTCH1 cause a spectrum of developmental aortic valve anomalies and severe valve calcification in nonsyndromic autosomal dominant human pedigrees. Genetic Heterogeneity of Aortic Valve Disease Also see AOVD2 (614823), caused by mutation in the SMAD6 gene (602931) on chromosome 15q22, and AOVD3 (618496), caused by mutation in the ROBO4 gene (607528) on chromosome 11q24. There is evidence for additional genetic heterogeneity (see MAPPING).
Aortic root aneurysm
MedGen UID:
720712
Concept ID:
C1298820
Anatomical Abnormality
Disproportionate tall stature
MedGen UID:
323048
Concept ID:
C1836996
Finding
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Crumpled ear
MedGen UID:
869737
Concept ID:
C4024166
Finding
Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Arachnodactyly
MedGen UID:
2047
Concept ID:
C0003706
Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Ulnar deviation of finger
MedGen UID:
68543
Concept ID:
C0231679
Finding
Distal arthrogryposis
MedGen UID:
120512
Concept ID:
C0265213
Disease or Syndrome
An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.
Scaphocephaly
MedGen UID:
82712
Concept ID:
C0265534
Congenital Abnormality
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Congenital kyphoscoliosis
MedGen UID:
87501
Concept ID:
C0345392
Congenital Abnormality
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Patellar subluxation
MedGen UID:
163635
Concept ID:
C0857276
Pathologic Function
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.
Patellar dislocation
MedGen UID:
253896
Concept ID:
C1135812
Injury or Poisoning
Displacement of the PATELLA from the femoral groove.
Adducted thumb
MedGen UID:
767531
Concept ID:
C3554617
Finding
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Calf muscle hypoplasia
MedGen UID:
811780
Concept ID:
C3805450
Finding
Underdevelopment of the muscuklature of the calf.
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Scaphocephaly
MedGen UID:
82712
Concept ID:
C0265534
Congenital Abnormality
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Displacement of the lens of the eye secondary to defective zonule formation that is present at the time of birth.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital contractural arachnodactyly
Follow this link to review classifications for Congenital contractural arachnodactyly in Orphanet.

Professional guidelines

PubMed

Pyeritz RE; American College of Medical Genetics and Genomics.
Genet Med 2012 Jan;14(1):171-7. Epub 2012 Jan 5 doi: 10.1038/gim.2011.48. PMID: 22237449

Recent clinical studies

Etiology

Maya I, Kahana S, Agmon-Fishman I, Klein C, Matar R, Berger R, Shohat M, Basel-Salmon L, Sharony R, Sagi-Dain L
Eur J Med Genet 2020 Oct;63(10):104008. Epub 2020 Jul 21 doi: 10.1016/j.ejmg.2020.104008. PMID: 32702406
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B
Genet Med 2020 Jan;22(1):124-131. Epub 2019 Jul 18 doi: 10.1038/s41436-019-0609-8. PMID: 31316167
You G, Zu B, Wang B, Wang Z, Xu Y, Fu Q
Int J Mol Sci 2017 Apr 5;18(4) doi: 10.3390/ijms18040626. PMID: 28379158Free PMC Article
Guo X, Song C, Shi Y, Li H, Meng W, Yuan Q, Xue J, Xie J, Liang Y, Yuan Y, Yu B, Wang H, Chen Y, Qi L, Li X
BMC Med Genet 2016 Dec 3;17(1):91. doi: 10.1186/s12881-016-0355-6. PMID: 27912749Free PMC Article
Takeda N, Morita H, Fujita D, Inuzuka R, Taniguchi Y, Imai Y, Hirata Y, Komuro I
Am J Med Genet A 2015 Oct;167A(10):2382-7. Epub 2015 May 14 doi: 10.1002/ajmg.a.37162. PMID: 25975422

Diagnosis

Miyake R, Ichikawa M, Naruse K
BMJ Case Rep 2021 Mar 1;14(3) doi: 10.1136/bcr-2020-237904. PMID: 33649036Free PMC Article
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B
Genet Med 2020 Jan;22(1):124-131. Epub 2019 Jul 18 doi: 10.1038/s41436-019-0609-8. PMID: 31316167
You G, Zu B, Wang B, Wang Z, Xu Y, Fu Q
Int J Mol Sci 2017 Apr 5;18(4) doi: 10.3390/ijms18040626. PMID: 28379158Free PMC Article
Guo X, Song C, Shi Y, Li H, Meng W, Yuan Q, Xue J, Xie J, Liang Y, Yuan Y, Yu B, Wang H, Chen Y, Qi L, Li X
BMC Med Genet 2016 Dec 3;17(1):91. doi: 10.1186/s12881-016-0355-6. PMID: 27912749Free PMC Article
Chen L, Diao Z, Xu Z, Zhou J, Wang W, Li J, Yan G, Sun H
J Assist Reprod Genet 2016 Nov;33(11):1459-1466. Epub 2016 Jul 9 doi: 10.1007/s10815-016-0760-y. PMID: 27393415Free PMC Article

Therapy

Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW
Nature 1991 Jul 25;352(6333):330-4. doi: 10.1038/352330a0. PMID: 1852206

Prognosis

Miyake R, Ichikawa M, Naruse K
BMJ Case Rep 2021 Mar 1;14(3) doi: 10.1136/bcr-2020-237904. PMID: 33649036Free PMC Article
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B
Genet Med 2020 Jan;22(1):124-131. Epub 2019 Jul 18 doi: 10.1038/s41436-019-0609-8. PMID: 31316167
Guo X, Song C, Shi Y, Li H, Meng W, Yuan Q, Xue J, Xie J, Liang Y, Yuan Y, Yu B, Wang H, Chen Y, Qi L, Li X
BMC Med Genet 2016 Dec 3;17(1):91. doi: 10.1186/s12881-016-0355-6. PMID: 27912749Free PMC Article
Takeda N, Morita H, Fujita D, Inuzuka R, Taniguchi Y, Imai Y, Hirata Y, Komuro I
Am J Med Genet A 2015 Oct;167A(10):2382-7. Epub 2015 May 14 doi: 10.1002/ajmg.a.37162. PMID: 25975422
Inbar-Feigenberg M, Meirowitz N, Nanda D, Toi A, Okun N, Chitayat D
Ultrasound Obstet Gynecol 2014 Oct;44(4):486-90. Epub 2014 Sep 8 doi: 10.1002/uog.13350. PMID: 24585410

Clinical prediction guides

Miyake R, Ichikawa M, Naruse K
BMJ Case Rep 2021 Mar 1;14(3) doi: 10.1136/bcr-2020-237904. PMID: 33649036Free PMC Article
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B
Genet Med 2020 Jan;22(1):124-131. Epub 2019 Jul 18 doi: 10.1038/s41436-019-0609-8. PMID: 31316167
Guo X, Song C, Shi Y, Li H, Meng W, Yuan Q, Xue J, Xie J, Liang Y, Yuan Y, Yu B, Wang H, Chen Y, Qi L, Li X
BMC Med Genet 2016 Dec 3;17(1):91. doi: 10.1186/s12881-016-0355-6. PMID: 27912749Free PMC Article
Takeda N, Morita H, Fujita D, Inuzuka R, Taniguchi Y, Imai Y, Hirata Y, Komuro I
Am J Med Genet A 2015 Oct;167A(10):2382-7. Epub 2015 May 14 doi: 10.1002/ajmg.a.37162. PMID: 25975422
Chen Y, Lei YP, Zheng HX, Wang W, Cheng HB, Zhang J, Wang HY, Jin L, Li H
Genet Test Mol Biomarkers 2009 Jun;13(3):295-300. doi: 10.1089/gtmb.2008.0132. PMID: 19473076

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