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, Riichiro Abe, Shiho Katsuie, Ryuhei Okuyama

autosomal recessive woolly hair hypotrichosis LIPH gene genetic mutations hair disorders

TLDR The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

This document reports the first Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G. The study was conducted by researchers from the Department of Dermatology at Shinshu University School of Medicine and the Division of Dermatology at Niigata University Graduate School of Medical and Dental Sciences. The findings contribute to the understanding of genetic mutations associated with hair disorders, specifically in the Japanese population.

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Research cited in this study

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research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

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