Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)

Identification of a novel pathogenic variant in the MYH3 gene in a five‐generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)

Abstract Background Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the MYH3 gene causes several types of arthrogryposis...

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Bibliographic Details
Main Authors: Jing Zhang, Wen‐Qi Chen, Si‐Wen Wang, Shao‐Xiong Wang, Mei Yu, Qing Guo, Ya‐Dong Yu
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CPSFS1A
distal arthrogryposis
MYH3
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1440

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