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[Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2024

Fu Dongxia, Chen Yongxing, Huang Ai, Wu Xue, Wang Huizhen, Wei Haiyan

Abstract excerpt

OBJECTIVE: The clinical and molecular genetic characteristics of 46,XY disorders of sex development caused by NR5A1 gene variants in 15 cases were analyzed to improve the understanding of this disease. METHODS: The clinical data of children with NR5A1 gene variants diagnosed at the Children's Hospital Affiliated to Zhengzhou University from March 2016 to December 2021 were retrospectively analyzed. Whole exome...

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Child
Child, Preschool
Disorder of Sex Development, 46,XY
Exome Sequencing
Infant

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PMID: 39097271
DOI: 10.3760/cma.j.cn511734-20221209-00853

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