Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients

    Can Cui, Xi Chen, Yingzi Zhang, Jianyi Ni, Jin-Yuan Ma, Aihua Wei
    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.
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