Associated Papers
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
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Gau M et al.
Frontiers in Endocrinology, 2022
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S et al.
Plos One, 2011
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