A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide. CCA is characterized by arachnodactyly, camptodactyly, the contracture of major joints, scoliosis, pectus deformities, and cru...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Xu, Peiwen, Li, Ruirui, Huang, Sexin, Sun, Menghan, Liu, Jiaolong, Niu, Yuping, Zou, Yang, Li, Jie, Gao, Ming, Li, Xiaolei, Gao, Xuan, Gao, Yuan
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7058790/
https://ncbi.nlm.nih.gov/pubmed/32184806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00143
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