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Michaela Mihulová

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Case report Open access Sep 2026

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report

Background Steroidogenic factor 1 (SF-1), encoded by the NR5A1 gene, is a critical transcriptional regulator of adrenal and gonadal development. Pathogenic NR5A1 variants lead to a broad phenotypic spectrum characterized by insufficient virilization, including gonadal and testicular dysgenesis, ambiguous genitalia, hyp...

Júlia Martinková, Michaela Mihulová, Miroslava Balaščáková et al. · 0 citations

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