A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly

A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA, OMIM:121050) is an autosomal dominant condition that shares skeletal features with Marfan syndrome (MFS, OMIM:154700), including contractures, arachnodactyly, dolichostenomelia, scoliosis, crumpled ears and pectus deformities but excluding the ocular and...

Full description

Bibliographic Details
Main Authors: Wei Liu, Ning Zhao, Xue-fu Li, Hong Wang, Yu Sui, Yong-ping Lu, Wen-hua Feng, Chao Ma, Wei-tian Han, Miao Jiang
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:FEBS Open Bio
Subjects:
Congenital contractural arachnodactyly
CCA
Fibrillin2
FBN2
Online Access:https://doi.org/10.1016/j.fob.2015.02.005

Internet

https://doi.org/10.1016/j.fob.2015.02.005

Similar Items