Associated Papers
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Gau M et al.
Frontiers in Endocrinology, 2022
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Laan M et al.
Clinical Endocrinology, 2021
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Kalinchenko NY et al.
Problemy Endokrinologii, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan R et al.
Human Mutation, 2018
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G et al.
Human Mutation, 2018
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
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