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Article

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

EBioMedicine - 1 Jan 2024

Kouri Chrysanthi, Sommer Grit, Martinez de Lapiscina Idoia, Elzenaty Rawda Naamneh, Tack Lloyd J W, Cools Martine, Ahmed S Faisal, Flück Christa E

Abstract excerpt

BACKGROUND: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. METHODS: We conducted a retrospective analysis on the so far largest international cohort of individuals with NR5A1/SF-1 variants, identified through the I-DSD registry and a research...

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Identifiers

PMID: 38168586
DOI: 10.1016/j.ebiom.2023.104941
PMCID: PMC10797150

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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