Associated Papers
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
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
Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.
Kulkarni V et al.
Molecular Human Reproduction, 2023
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R et al.
Plos One, 2017
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
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
Malikova J et al.
Plos One, 2014
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