A novel DEAH-box helicase 37 mutation associated with differences of sex development

A novel DEAH-box helicase 37 mutation associated with differences of sex development

ObjectiveTo determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD).MethodsAssess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional studies.ResultsThe 15-year-old proband, raised as...

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Bibliographic Details
Main Authors: Yun Wan, Richeng Yu, Jianhua Luo, Ping Huang, Xingju Zheng, Liqun Sun, Kui Hu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Endocrinology
Subjects:
46
XY differences of sex development
family pedigree
DEAH-box helicase 37
whole-exome sequencing
β-catenin
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1059159/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1059159/full

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