Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development - Kouri, Chrysanthi; Sommer, Grit; Martinez de Lapiscina, Idoia; Elzenaty, Rawda Naamneh; Tack, Lloyd J.W.; Cools, Martine; Ahmed, S. Faisal; Flück, Christa E.; Abali, Saygin; Abali, Zehra Yavas; Akin, Leyla; Almaraz, Maricruz; et al. (EBioMedicine, 2024)
Keywords: Advanced Basic Science; Broad phenotype; Differences of sex development (DSD); Female; Genetics of sex determination and differentiation; Humans; Infant, Newborn; Internal Medicine; Intersex; Mutation; Phenotype; Retrospective Studies; Sexual Development - genetics; Steroidogenic factor 1 (SF-1/NR5A1); Steroidogenic Factor 1 - genetics; Intersex; Broad phenotype; Steroidogenic factor 1 (SF-1/NR5A1); Genetics of sex determination and differentiation; Differences of sex development (DSD); Steroidogenic factor 1 (SF-1/ NR5A1)