Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Abstract Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2. The majority of the COL5A2 mutations reported to date represent structural mutations, including missense or in‐frame exon‐ski...

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Bibliographic Details
Main Authors: Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
classic Ehlers Danlos syndrome
COL5A2
splicing
synonymous mutation
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1632

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