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Article

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

The Journal of investigative dermatology - 1 Mar 2009

Shimomura Yutaka, Wajid Muhammad, Petukhova Lynn, Shapiro Lawrence, Christiano Angela M

Abstract excerpt

Woolly hair (WH) is characterized by the presence of fine and tightly curled hair. WH can appear as a symptom of some systemic diseases, or without associated findings (nonsyndromic WH). Nonsyndromic WH is known to be inherited as either an autosomal-dominant (OMIM 194300) or recessive (ARWH; OMIM 278150) trait. In this study, we identified 11 consanguineous families of Pakistani origin with ARWH, as well as...

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Share to Founder Effect
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Hypotrichosis

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Share to Receptors, G-Protein-Coupled

Share to Receptors, Purinergic P2

Share to Sequence Homology, Amino Acid

Source

Identifiers

PMID: 18830268
DOI: 10.1038/jid.2008.290

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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Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.PMID 18830268Read ↗

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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).Semantic proximity Read ↗

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Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.Semantic proximity Read ↗

Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.Semantic proximity Read ↗

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

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