A missense mutation in NR5A1 causing female to male sex reversal: A case report-Reference-Cited by-同舟云学术

A missense mutation in NR5A1 causing female to male sex reversal: A case report

Published:2020-04-09 Issue:6 Volume:52 Page:
ISSN:0303-4569
Container-title:Andrologia
language:en
Short-container-title:Andrologia

Author:

Askari Masomeh¹,Rastari Mandana¹²,Seresht‐Ahmadi Mehrshad¹²,McElreavey Kenneth³,Bashamboo Anu³,Razzaghy‐Azar Maryam⁴,Totonchi Mehdi¹⁵^ORCID

Affiliation:

1. Department of Genetics Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine ACECR Tehran Iran

2. Department of Basic Science and Advanced Technologies in Biology University of Science and Culture Tehran Iran

3. Human Developmental Genetics Institute Pasteur Paris France

4. Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular‐Cellular Sciences Institute Tehran University of Medical Sciences Tehran Iran

5. Department of Stem Cells and Developmental Biology Cell Science Research Center Royan Institute for Stem Cell Biology and Technology ACECR Tehran Iran

Funder

Royan Research Institute, Tehran, Iran

Iran National Science Foundation

Publisher

Wiley

Subject

Urology,Endocrinology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/and.13585

Reference24 articles.

1. Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

2. Identification of a homozygous GFPT2 variant in a family with asthenozoospermia