Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of t...

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Detalles Bibliográficos
Autores principales: Deng, Hao, Lu, Qian, Xu, Hongbo, Deng, Xiong, Yuan, Lamei, Yang, Zhijian, Guo, Yi, Lin, Qiongfen, Xiao, Jingjing, Guan, Liping, Song, Zhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873217/
https://www.ncbi.nlm.nih.gov/pubmed/27196565
http://dx.doi.org/10.1371/journal.pone.0155908

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873217/
https://www.ncbi.nlm.nih.gov/pubmed/27196565
http://dx.doi.org/10.1371/journal.pone.0155908

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