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, Jose Puig‐Buendia, Raquel Cavestany‐Rodríguez, 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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