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Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
EBioMedicine. 2025 Mar;113:105624. doi: 10.1016/j.ebiom.2025.105624. Epub 2025 Mar 3.
EBioMedicine. 2025.
PMID: 40037090
Free PMC article.
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE; SF1next study group.
Kouri C, et al.
EBioMedicine. 2024 Jan;99:104941. doi: 10.1016/j.ebiom.2023.104941. Epub 2024 Jan 1.
EBioMedicine. 2024.
PMID: 38168586
Free PMC article.
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