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
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
Teoli J et al.
Frontiers in Endocrinology, 2023
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant.
Alhamoudi KM et al.
Frontiers in Genetics, 2022
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Camats N et al.
European Journal of Human Genetics : Ejhg, 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
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