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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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Anna Křepelová

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Open access Sep 2026

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

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, hypo...

Júlia Martinková, Michaela Mihulová, Miroslava Balaščáková et al. · 0 citations
Open access Aug 2026

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

BACKGROUND Complete androgen insensitivity syndrome (CAIS) is one of the most prevalent conditions of disorders/differences of sex development (DSD), with an X-linked recessive inheritance. A hemizygous pathogenic variant in the AR gene causes the condition. CASE REPORT We present a five-generation Czech family with...

Júlia Martinková, Andrea Gřegořová, M. Wayhelova et al. · 0 citations

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