<b><i>NR5A1</i></b> Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations-Reference-Cited by-同舟云学术

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NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

Published:2016 Issue:4 Volume:10 Page:191-199
ISSN:1661-5425
Container-title:Sexual Development
language:en
Short-container-title:Sex Dev

Author:

Fabbri Helena C.,Ribeiro de Andrade Juliana G.,Maciel-Guerra Andréa T.,Guerra-Júnior Gil,de Mello Maricilda P.

Publisher

S. Karger AG

Subject

Developmental Biology,Embryology,Endocrinology, Diabetes and Metabolism

Cited by 20 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. Genomic technologies and the diagnosis of 46, XY differences of sex development;Andrology;2024-07-31

2. Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development;Journal of Endocrinological Investigation;2023-02-06

3. Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation;Asian Journal of Andrology;2023

4. “Waking up” the sleeping metaphor of normality in connection to intersex or DSD: a scoping review of medical literature;History and Philosophy of the Life Sciences;2022-10-25

5. The Use of Genetics for Reaching a Diagnosis in XY DSD;Sexual Development;2022

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