Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

Abstract Background 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, scoliosis, abnormal pinnae, muscu...

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Bibliographic Details
Main Authors: Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang
Format: Article
Language:English
Published: Wiley 2021-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
beals syndrome
congenital contractural arachnodactyly
FBN2
prenatal diagnosis
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1638

Internet

https://doi.org/10.1002/mgg3.1638

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