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ALLMedicine™ Arachnodactyly Center

Research & Reviews  10 results

Congenital contractural arachnodactyly suspected by abnormally long extremities by feta...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7929828
BMJ Case Reports; Miyake R, Ichikawa M et. al.

Mar 3rd, 2021 - Congenital contractural arachnodactyly (CCA) is a rare disease with the clinical features of limited extension of multiple joints, arachnodactyly, camptodactyly, thin and long extremities, and so on. In the point of long extremities, CCA resembles...

Mutation analysis and prenatal diagnosis of a family with congenital contractural arach...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8123754
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.

Feb 28th, 2021 - Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant condition caused by mutations in the fibrillin 2 gene (FBN2). The primary clinical symptoms of CCA include multiple flexion contractures, arachnodactyly, dolichostenomelia, ...

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants i...
https://doi.org/10.1016/j.ejmg.2021.104161
European Journal of Medical Genetics; Kloth K, Neu A et. al.

Feb 12th, 2021 - Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to cause congenital contractural arachnodactyly (CCA; Beals-Hecht syndrome). Cl...

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassin...
https://doi.org/10.1016/j.ejmg.2020.104008
European Journal of Medical Genetics; Maya I, Kahana S et. al.

Jul 24th, 2020 - Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder, associated with heterozygous mutations in the FBN2 gene. The objective of this study was to evaluate the prevalence of an intragenic deletion encompassing exons 1-8...

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