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Article

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

Frontiers in endocrinology - 1 Jan 2023

Wan Yun, Yu Richeng, Luo Jianhua, Huang Ping, Zheng Xingju, Sun Liqun, Hu Kui

Abstract excerpt

Objective: To determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD). Methods: Assess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional studies. Results: The 15-year-old proband, raised as female, presented with delayed puberty and short stature associated with atypical genitalia. Hormonal...

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Identifiers

PMID: 37065748
DOI: 10.3389/fendo.2023.1059159
PMCID: PMC10098359

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