Clinical Characterization and Analysis of the <i>SRD5A2 </i>Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency-Reference-Cited by-同舟云学术

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Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency

Published:2010 Issue:1 Volume:73 Page:41-48
ISSN:1663-2826
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Ko Jung Min,Cheon Chong-Kun,Kim Gu-Hwan,Kim Sung Hoon,Kim Kun Suk,Yoo Han-Wook

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Cited by 30 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic control of typical and atypical sex development;Nature Reviews Urology;2023-04-05

2. The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective;International Journal of Molecular Sciences;2023-02-07

3. Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children;Clinical Chemistry and Laboratory Medicine (CCLM);2022-05-24

4. Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2;European Journal of Endocrinology;2020-09

5. Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency;Molecular Genetics & Genomic Medicine;2020-07-26

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