Article

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

2025-05-07

Abstract excerpt

Sex-specific penetrance in autosomal dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the largest PILBOS cohort to date, showing that both sexes can exhibit PILBOS features, although males are overrepresented. A mouse model carrying a human-d...

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Literature Corpus work: f01dc227-4796-50f2-b748-bc3d950ba5ad
DOI: 10.1101/2025.05.06.25326635

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