46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5 α ‐reductase type‐2 ( SRD5A2 ) gene-Reference-Cited by-同舟云学术

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5 α ‐reductase type‐2 ( SRD5A2 ) gene

Published:2014-03-16 Issue:4 Volume:2 Page:292-296
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chávez Bertha¹,Ramos Luis¹,Gómez Rita²,Vilchis Felipe¹

Affiliation:

1. Department of Reproductive Biology Instituto Nacional de Ciencias Médicas y Nutrición S. Z. México City México

2. Department of Clinical Epidemiology Medical Research Unit Hospital de Especialidades, CMN Siglo XXI, Instituto Mexicano del Seguro Social México City México

Funder

Consejo Nacional de Ciencia y Tecnología

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.76

Reference21 articles.

1. Mutations of the 5α-reductase Type 2 gene in eight Mexican patients from six different pedigrees with 5α-reductase-2 deficiency

2. Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases

3. Uniparental Disomy in Steroid 5 -Reductase 2 Deficiency

Cited by 7 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. Whole-exome sequencing study of hypospadias;iScience;2023-05

2. Whole-exome Sequencing Study of Hypospadias;2022-01-21

3. Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias;Journal of Pediatric Urology;2020-10

4. Mutational analysis of SRD5A2: From gene to functional kinetics in individuals with steroid 5α-reductase 2 deficiency;The Journal of Steroid Biochemistry and Molecular Biology;2020-06

5. Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study;Fetal and Pediatric Pathology;2020-05-25