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Article

A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).

The British journal of dermatology - 1 Jan 2009

Kamran-ul-Hassan Naqvi S, Raza S I, Naveed A K, John P, Ahmad W

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18795930
DOI: 10.1111/j.1365-2133.2008.08822.x

Genes

LIPH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2).PMID 18795930Read ↗

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

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

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

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis.Semantic proximity Read ↗

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

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

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi familySemantic proximity Read ↗

Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.Semantic proximity Read ↗

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

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

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.Semantic proximity Read ↗

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

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