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Article

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

Journal of dermatological science - 1 Apr 2009

Naz Gul, Khan Bushra, Ali Ghazanfar, Azeem Zahid, Wali Abdul, Ansar Muhammad, Ahmad Wasim

Abstract excerpt

BACKGROUND: Autosomal recessive hypotrishosis (LAH2) is a rare form of alopecia characterized by sparse hair on scalp, sparse to absent eyebrows and eyelashes, and sparse auxiliary and body hair. However, affected male individuals have normal beard hair. Mutations in lipase H (LIPH) gene, located on chromosome 3q26.33, have been shown to be responsible for LAH2 type of hypotrichosis. OBJECTIVES: To search for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19167195
DOI: 10.1016/j.jdermsci.2008.12.001

Genes

LIPH

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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Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).PMID 19167195Read ↗

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

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