Two Siblings With Uncombable Hair Syndrome: A New Pathogenic Variant

    March 2024 in “ Pediatric Dermatology ”
    Carlos Calvo‐Asín, Sara Isabel Palencia Pérez, Juan Francisco Quesada‐Espinosa … Virginia Velasco‐Tamariz
    Studysummary This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
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    Research cited in this study 2

    1. Uncombable Hair Syndrome and Beyond Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2022
    2. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016