Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case

    February 2023 in “ Journal of dermatology ”
    Natsuki Yamaguchi, Yukiko Kiniwa, Rikimaru Hayashi … Ryuhei Okuyama
    Studysummary This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.
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    Research cited in this study 2

    1. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    2. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006