sameAs
Congenital contractural arachnodactyly (Beals syndrome)Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literatureExome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.Congenital contractural arachnodactyly.Congenital contractural arachnodactyly (Beals syndrome).Congenital contractural arachnodactyly in two double second cousins: possible homozygosity.A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome SequencingWhole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactylyCardiac anomalies complicating congenital contractural arachnodactyly.Pulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactylyCongenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.Congenital contractural arachnodactyly. Report of four additional families and review of literature.Congenital contractural arachnodactyly. Report of a neonate with advanced bone age.Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.Congenital contractural arachnodactyly: description of a new kindred.Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome.The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly.Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.Congenital contractural arachnodactyly in a black family.Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability.Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: an unusual association.Novel dental anomalies associated with congenital contractural arachnodactyly: a case report.The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria.[Congenital contractural arachnodactyly. Report of 2 clinical cases]Congenital contractural arachnodactyly in a black African kindred.Cardiac defects in a patient with congenital contractural arachnodactyly.Kyphoscoliosis in congenital contractural arachnodactyly. A case report.A severe form of congenital contractural arachnodactyly in two newborn infantsBeals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
P921
Q21093174-C60C7358-AEE7-48F1-9E6E-EF3FEF0BF458Q28213329-3907117E-4B22-4E69-B4FA-92EDCA19A9A9Q28242509-0DDCD000-7DB5-46BA-B567-B47AD0EA2B25Q28300718-3E3A2168-2C96-441E-9C42-47D5CD8D9395Q33624200-68073E27-997A-459B-BAB4-40A115B828B4Q33822489-FDA22FB1-D376-4EC2-8D93-8EDD1C233AFFQ34315538-AC7EBC52-F989-4FD6-95EE-CA86A4FA517CQ34729908-206B4472-D252-4613-B18A-DB748414F72CQ35178445-EBDB1F95-D8A0-495F-B102-6458909C0AEBQ35224279-E568FDC8-9478-4FAE-8918-FB032A003727Q35250347-5D21BB99-54A0-4EB7-B594-FF7D5F1747DAQ35882206-9F7EF66F-E3C7-4BDE-A13B-E505B1FC8150Q36022693-49704746-FBA8-4682-BCE2-8D1A9822ACF3Q36212293-65704112-6F31-44B8-A03C-9B3088F71805Q36824423-A8208A42-AD73-4147-8416-D6D04141C952Q37068183-A44AA187-EDC2-47E0-8005-C95AF77A1578Q38953991-9D6F087F-8790-46E4-A599-C42DB6AF18E0Q39859264-CAF74FCD-DD26-4E64-91C4-15E5CE6787CEQ40228183-39FBD021-ADA8-4307-8C3C-3D6B0FD78CEDQ41268641-1F363F30-E133-4C08-B538-33EA8EBC0377Q41606385-5FF90A1B-D020-413B-A73C-C68476ADCAB4Q41953235-2E995C25-E58B-4AB2-A154-D2F5D3B22657Q42773982-8C0EA674-C3F4-4446-AED2-A3DD81C297D6Q43073730-B66ABFF4-4806-4067-BF7E-E38EB88B136DQ44495657-0ED6B56E-62A9-412E-BB8C-97C8EBA5F795Q45169553-DF2EF48A-9134-48C3-B8B2-22B6ECDC4299Q45880585-3E50AB6B-6ABA-4920-B65B-E2F2230BBA69Q46893295-7F1F32C8-40F9-44E6-814C-29852CFC4995Q48030471-76115A5D-2C03-4886-AE40-BE0818FF65FEQ48315381-F7D4704B-4EE9-401B-9172-FDC0B973FD34Q50304478-4DDF7A1C-7C42-4EBE-9DE4-B44DE537B1D1Q50467686-6239818F-BCAA-46D0-9CA0-FD82114868B7Q52097160-2C690FD4-240D-4E1C-8598-4D693BCDA773Q52113905-C00640C2-056F-475E-95CF-A3473FCC67BFQ52247520-E9A61882-1185-4518-82AE-0F1CEF8ACF0DQ53858224-5F490284-125A-4AA4-B68A-2AE4E94D56BEQ54171648-D2AEE305-D7F2-4FEB-A8AD-DA2F27FB3DC0Q54712303-2237B256-15EC-44FB-8B03-D58AABA5BFB5Q57386885-520E1747-7C96-4E69-983F-FEF978A4BA6EQ57636421-61E63081-BD4D-4742-A3D6-A45309290BF4
P921
name
Congenital contractural arachnodactyly
@en
Congenital contractural arachnodactyly
@nl
Kongenitale Kontrakturale Arachnodaktylie
@de
Sindrome di Beals
@it
Syndrome de Beals
@fr
Zespół Bealsa
@pl
عنكبية الأصابع التقفعية الخلقية
@ar
先天性攣縮細長指
@zh
type
label
Congenital contractural arachnodactyly
@en
Congenital contractural arachnodactyly
@nl
Kongenitale Kontrakturale Arachnodaktylie
@de
Sindrome di Beals
@it
Syndrome de Beals
@fr
Zespół Bealsa
@pl
عنكبية الأصابع التقفعية الخلقية
@ar
先天性攣縮細長指
@zh
altLabel
Beals syndrome
@en
Distal arthrogryposis type 9
@en
Syndrome de beals
@fr
prefLabel
Congenital contractural arachnodactyly
@en
Congenital contractural arachnodactyly
@nl
Kongenitale Kontrakturale Arachnodaktylie
@de
Sindrome di Beals
@it
Syndrome de Beals
@fr
Zespół Bealsa
@pl
عنكبية الأصابع التقفعية الخلقية
@ar
先天性攣縮細長指
@zh
P6366
P646
P1748
P2293
P492
P6366
2780759984
2908913227
P646
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