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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-01-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1034 |