New NR5A1 mutations and phenotypic variations of gonadal dysgenesis-Reference-Cited by-同舟云学术

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Published:2017-05-01 Issue:5 Volume:12 Page:e0176720
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Werner Ralf,Mönig Isabel,Lünstedt Ralf,Wünsch Lutz,Thorns Christoph,Reiz Benedikt,Krause Alexandra,Schwab Karl Otfried,Binder Gerhard,Holterhus Paul-Martin,Hiort Olaf^ORCID

Funder

Universitat zu Lubeck

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference61 articles.

1. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex;PA Lee;Pediatrics,2006

2. DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease;JP Suntharalingham;Best practice & research Clinical endocrinology & metabolism,2015

3. A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s;K Morohashi;The Journal of biological chemistry,1992

4. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation;X Luo;Cell,1994

5. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer;R Sekido;Nature,2008

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