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J. van den Bergen

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Open access Sep 2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population

Abstract Differences of sex development (DSD) are a group of rare congenital conditions defined by atypical chromosomal, gonadal, and/or hormonal sex. Despite advances in massively parallel sequencing (MPS), more than half of DSD cases have an unknown genetic aetiology. We recruited and analysed 21 individuals with 46,...

Firman P. Idris, T. Tayeb, G. Robevska et al. · 0 citations

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