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Article

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

The Journal of investigative dermatology - 1 Nov 2007

Natsuga Ken, Akiyama Masashi, Kato Naoko, Sakai Kaori, Sugiyama-Nakagiri Yoriko, Nishimura Machiko, Hata Hiroo, Abe Masataka, Arita Ken, Tsuji-Abe Yukiko, Onozuka Takashi, Aoyagi Satoru, Kodama Kazuo, Ujiie Hideyuki, Tomita Yuki, Shimizu Hiroshi

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Share to ATP-Binding Cassette Transporters
Share to Autoimmune Bullous Skin Diseases
Share to Cutaneous lymphoproliferative disorders research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosiform Erythroderma, Congenital

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Source

Identifiers

PMID: 17508018
DOI: 10.1038/sj.jid.5700885

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.PMID 17508018Read ↗

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

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

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

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

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

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

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