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About 58 results

ALLMedicine™ Arachnodactyly Center

Research & Reviews  29 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 2nd, 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://doi.org/10.1002/mgg3.1638
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.

Feb 27th, 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 11th, 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 23rd, 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...

Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/cca/

Oct 20th, 2019 - 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; kyphoscoli...

see more →

Clinicaltrials.gov  29 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 2nd, 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://doi.org/10.1002/mgg3.1638
Molecular Genetics & Genomic Medicine; Hu L, Li H et. al.

Feb 27th, 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 11th, 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 23rd, 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...

Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/cca/

Oct 20th, 2019 - 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; kyphoscoli...

see more →