Author

T. Tayeb

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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. · Human Molecular Genetics · 0 citations

#protein folding Sep 2026

Homozygous variants in ZSWIM6 cause severe syndromic short stature and developmental delay.

Introduction We investigated two siblings from a consanguineous Kurdish family presenting with a specific facial phenotype (prominent forehead, supraorbital ridges, broad nose, depressed nasal bridge), severe short stature with biochemical features of growth hormone (GH) deficiency, microcephaly, and developmental dela...

S. Amaratunga, Martin Bezdíčka, T. Tayeb et al. · Hormone Research in Paediatr... · 0 citations