Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations: A Case Report

    July 2025 in “ Frontiers in Medicine ”
    Ying Xie, Sha Luo, Yumei Yang … Dingquan Yang
    Studysummary This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
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    Research cited in this study 2

    1. Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2021
    2. Woolly Hair Nevus: A Rare Case with Late Onset in Adolescence Journal of The American Academy of Dermatology · 1990