Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

Autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare inherited hair disease. In this study, we report a 31-year-old Chinese female with the characteristic clinical features of woolly hair and hypotrichosis. Through whole-exome sequencing (WES), we identified a novel missense variant (NM_13...

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Bibliographic Details
Main Authors: Xinyue Zhang, Kexin Guo, Jiawei Liu, Xueting Yang, Rui Zhang, Rongrong Wang, Donglai Ma, Xue Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
Subjects:
woolly hair
hypotrichosis
ARWH
LIPH
missense variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1591409/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1591409/full

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