Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
Naamneh Elzenaty R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M et al.
European Journal of Endocrinology, 2024
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 )
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