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
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Hussain S et al.
Andrologia, 2016
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White PC et al.
Endocrine Reviews, 2000
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