Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

doi:10.1086/429844

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Article

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

American journal of human genetics - 1 May 2005

Kelsell David P, Norgett Elizabeth E, Unsworth Harriet, Teh Muy-Teck, Cullup Thomas, Mein Charles A, Dopping-Hepenstal Patricia J, Dale Beverly A, Tadini Gianluca, Fleckman Philip, Stephens Karen G, Sybert Virginia P, Mallory Susan B, North Bernard V, Witt David R, Sprecher Eli, Taylor Aileen E M, Ilchyshyn Andrew, Kennedy Cameron T, Goodyear Helen, Moss Celia, Paige David, Harper John I, Young Bryan D, Leigh Irene M, Eady Robin A J, O'Toole Edel A

Abstract excerpt

Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of...

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PMID: 15756637
DOI: 10.1086/429844
PMCID: PMC1199369

Genes

ABCA12

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.PMID 15756637Read ↗

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Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.Semantic proximity Read ↗

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