Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

    February 2018 in “ The Journal of Dermatology ”
    Yukari Mizukami, Rikimaru Hayashi, Daisuke Tsuruta … Koji Sugawara
    Studysummary This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
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    Research cited in this study 3

    1. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    2. The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    3. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008