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

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

Ting Gui,1,* Fengxia Yao,2,* Xinzhuang Yang,2 Xi Wang,3 Min Nie,3 Xueyan Wu,3 Qinjie Tian1 1Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric and Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medica...

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Bibliographic Details
Main Authors: Gui T, Yao F, Yang X, Wang X, Nie M, Wu X, Tian Q
Format: Article
Language:English
Published: Dove Medical Press 2022-08-01
Series:International Journal of General Medicine
Subjects:
5α-reductase type 2 deficiency
srd5a2 gene mutation
androgen receptor insensitivity
disorders of sex development
differential diagnosis.
Online Access:https://www.dovepress.com/genotypephenotype-correlation-analysis-and-identification-of-a-novel-s-peer-reviewed-fulltext-article-IJGM

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https://www.dovepress.com/genotypephenotype-correlation-analysis-and-identification-of-a-novel-s-peer-reviewed-fulltext-article-IJGM

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