Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

    Thiviyani Maruthappu, L.A. McGinty, Diana C. Blaydon … David P. Kelsell
    Studysummary In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on jidonline.org →
    Discuss this study in the Community →

    Research cited in this study 1

    1. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011