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
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Gomes NL et al.
Clinical Endocrinology, 2018
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
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