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Article

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Human mutation - 1 Oct 2010

Akiyama Masashi

Abstract excerpt

Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious...

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Share to ATP-Binding Cassette Transporters
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Source

Identifiers

PMID: 20672373
DOI: 10.1002/humu.21326

Genes

ABCA12

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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