Associated Papers
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
Naamneh Elzenaty R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
38168586 (PubMed )
Supplement: mmc1.pdf
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
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.
Colson C et al.
Clinical Genetics, 2017
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2016
Select a paper to view details