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Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).

Mutagenesis - 31 Dec 2017

Chang Xiao-Dan, Gu Ya-Juan, Dai Shan, Chen Xue-Rong, Zhang Chun-Lei, Zhao Hong-Shan, Song Qing-Hua

Abstract excerpt

Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three...

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Source

Identifiers

PMID: 29346610
DOI: 10.1093/mutage/gex043

Genes

LIPH
LPAR6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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