Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome

Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome

Abstract Background CHARGE syndrome is a complex multisystem genetic disease. We aimed to find the potential gene mutation in the labor induced fetus with CHARGE syndrome. Methods Genomic DNA was extracted from the fetal thigh muscle tissue and the peripheral blood of his parents. The resulting exom...

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Bibliographic Details
Main Authors: Xiao Song, Xueyan Wang, Li Ding, Dan He, Jin Sun, Na Xi, Yan Yin, Hui Peng, Lingling Sun
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CHARGE syndrome
fetus
heterozygous missense mutation
SEMA3E
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1034

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