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Article

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.

The Journal of dermatology - 1 Nov 2018

Murase Chiaki, Takeichi Takuya, Sugiura Kazumitsu, Kobayashi Miki, Shiomi Kozue, Ikebuchi Kaichiro, Tsutsumi Yutaka, Akiyama Masashi

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

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Share to Ichthyosiform Erythroderma, Congenital

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Source

Identifiers

PMID: 29722424
DOI: 10.1111/1346-8138.14350

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.PMID 29722424Read ↗

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

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

Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations.Semantic proximity Read ↗

Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report.Semantic proximity Read ↗

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

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 ↗

Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation.Semantic proximity Read ↗

Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.Semantic proximity Read ↗

Hearing impairment in Usher's syndrome.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 ↗

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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