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[Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Gao Long, Wang Ping, Zhang Mingying, Qian Ying, Liu Nan, Xu Xiaowei, Wang Xuetao, Shu Jianbo, Lyu Ling

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation. METHODS: The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode...

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PMID: 34729757
DOI: 10.3760/cma.j.cn511374-20200902-00645

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