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Article

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

The Australasian journal of dermatology - 1 Aug 2015

Mehmood Sabba, Jan Abid, Muhammad Dost, Ahmad Farooq, Mir Hina, Younus Muhammad, Ali Ghazanfar, Ayub Muhammad, Ansar Muhammad, Ahmad Wasim

Abstract excerpt

Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease-causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype...

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Source

Identifiers

PMID: 24628704
DOI: 10.1111/ajd.12157

Genes

LIPH

Variants

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Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.PMID 24628704Read ↗

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

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

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

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

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

Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.Semantic proximity Read ↗

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

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

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.Semantic proximity Read ↗

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

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

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