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Article

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.

Pediatric dermatology - 1 Jan 2000

Mehmood Sabba, Shah Sayed Hajan, Jan Abid, Younus Muhammad, Ahmad Farooq, Ayub Muhammad, Ahmad Wasim

Abstract excerpt

Hypotrichosis is a condition of abnormal hair pattern characterized by sparse to absent hair on different parts of the body, including the scalp. The condition is often characterized by tightly curled woolly hairs, discoloration of hair, and development of multiple keratin filled cysts or papules on the body. Sequence analysis of the lipase H (LIPH) gene, mapped on chromosome 3q27.3, led to the identification of...

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Share to Chromosomes, Human, Pair 3
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26645693
DOI: 10.1111/pde.12727

Genes

LIPH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.PMID 26645693Read ↗

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.Semantic proximity Read ↗

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

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

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

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.Semantic proximity Read ↗

Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.Semantic proximity Read ↗

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis.Semantic proximity Read ↗

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 ↗

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

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.Semantic proximity Read ↗

Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.Semantic proximity Read ↗

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.Semantic proximity Read ↗

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