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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058790/
https://www.ncbi.nlm.nih.gov/pubmed/32184806
http://dx.doi.org/10.3389/fgene.2020.00143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058790/
https://www.ncbi.nlm.nih.gov/pubmed/32184806
http://dx.doi.org/10.3389/fgene.2020.00143

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