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
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
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
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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