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Article

ABCA12 Is a Major Causative Gene for Non-Bullous Congenital Ichthyosiform Erythroderma

5 Mar 2009

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 19262603
DOI: 10.1038/jid.2009.23

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Related research

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ABCA12 Is a Major Causative Gene for Non-Bullous Congenital Ichthyosiform ErythrodermaPMID 19262603Read ↗

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

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

ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay.Semantic proximity Read ↗

Novel variants in ABCA12 cause erythrokeratodermia variabilis.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 ↗

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

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

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

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.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 ↗

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

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

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