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Article

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.

Scientific reports - 1 Jan 2012

Tariq Muhammad, Azhar Aysha, Baig Shahid Mahmood, Dahl Niklas, Klar Joakim

Abstract excerpt

Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Sequence analysis of...

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Source

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Identifiers

PMID: 23066499
DOI: 10.1038/srep00730
PMCID: PMC3470015

Genes

LIPH

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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