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Article

A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect.

European journal of dermatology : EJD - 1 Jan 2000

Azhar Aysha, Tariq Muhammad, Baig Shahid Mahmood, Dahl Niklas, Klar Joakim

Abstract excerpt

Mutations in the lysophosphatidic acid receptor 6 (LPAR6) gene cause localized autosomal recessive hypotrichosis. We report six consanguineous families from Pakistan with segregating hypotrichosis localized to the scalp. Genetic investigation using polymorphic microsatellite markers revealed homozygosity spanning the LAH3 locus on chromosome 13 in affected individuals of all six families. Sequence analysis of the...

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Identifiers

PMID: 22531990
DOI: 10.1684/ejd.2012.1731

Genes

LPAR6

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