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Article

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

The British journal of dermatology - 1 Jan 2012

Fukuda S, Hamada T, Ishii N, Sakaguchi S, Sakai K, Akiyama M, Shimizu H, Masuda K, Izu K, Teye K, Tsuruta D, Karashima T, Nakama T, Yasumoto S, Hashimoto T

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Share to ATP-Binding Cassette Transporters
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21729033
DOI: 10.1111/j.1365-2133.2011.10516.x

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.PMID 21729033Read ↗

ABCA12 Is a Major Causative Gene for Non-Bullous Congenital Ichthyosiform ErythrodermaSemantic proximity Read ↗

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.Semantic proximity Read ↗

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Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.Semantic proximity Read ↗

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.Semantic proximity Read ↗

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Semantic proximity Read ↗

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.Semantic proximity Read ↗

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

A novel mutation in the ABCA12 gene in a Turkish case of Harlequin ichthyosis.Semantic proximity Read ↗

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.Semantic proximity Read ↗

Novel variants in ABCA12 cause erythrokeratodermia variabilis.Semantic proximity Read ↗

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.Semantic proximity Read ↗

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