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Article

Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis.

The Journal of investigative dermatology - 1 Aug 2009

Shimomura Yutaka, Wajid Muhammad, Zlotogorski Abraham, Lee Young-Jin, Rice Robert H, Christiano Angela M

Abstract excerpt

Autosomal-recessive woolly hair (ARWH)/hypotrichosis is a hereditary hair disorder which is characterized by tightly curled hair and is associated with sparse hair. ARWH can be caused by mutations in the P2RY5 or lipase H (LIPH) gene. Disruption of either gene results in phenotypes with features of both wooly hair (WH) and hypotrichosis. In this study, we identified two Guyanese families with ARWH. Both families...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19262606
DOI: 10.1038/jid.2009.19
PMCID: PMC2859194

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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