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Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency

OBJECTIVE: The 5α-reductase type 2 deficiency is mainly caused by mutations in the SRD5A2 gene. Our study aims to investigate the SRD5A2 gene mutations and their corresponding manifestations. METHODS: Four unrelated Chinese patients with 46, XY ambiguous genitalia were studied. Molecular genetic alt...

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Detalles Bibliográficos
Autores principales:	Gui, Ting, Yao, Fengxia, Yang, Xinzhuang, Wang, Xi, Nie, Min, Wu, Xueyan, Tian, Qinjie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2022
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9395993/ https://www.ncbi.nlm.nih.gov/pubmed/36016984 http://dx.doi.org/10.2147/IJGM.S377675

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