Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
November 2025
in “
Clinical Cosmetic and Investigational Dermatology
”
TLDR LIPH mutations cause woolly hair in some Chinese people.
This study investigates autosomal recessive woolly hair (ARWH) caused by LIPH mutations in six Chinese patients, highlighting the c.454G>A (p.G152R) variant as a potentially recurrent allele in this population. The findings contribute to a broader understanding of LIPH-related ARWH among Chinese individuals.