The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective

The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the <i>SRD5A2</i> gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 is...

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Bibliographic Details
Main Authors: Jieun Seo, Saeam Shin, Sang-woon Kim, Su Jin Kim, Myeongseob Lee, Kyungchul Song, Junghwan Suh, Seung-Tae Lee, Yong Seung Lee, Hyun Wook Chae, Ho-Seong Kim, Jong Rak Choi, Sangwon Han, Ahreum Kwon
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Molecular Sciences
Subjects:
5α-reductase deficiency
<i>SRD5A2</i> gene
disorders of sex development
genotype-phenotype correlation
external masculinization score
Online Access:https://www.mdpi.com/1422-0067/24/4/3297

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https://www.mdpi.com/1422-0067/24/4/3297

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