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Article

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

European journal of dermatology : EJD - 1 Jan 2000

Nawaz Sadia, Tariq Muhammad, Ahmad Ilyas, Malik Naveed Altaf, Baig Shahid Mahmood, Dahl Niklas, Klar Joakim

Abstract excerpt

A Mutations in the gene encoding the ABCA12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI), including Harlequin ichthyosis (HI), lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). Disruption of ABCA12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum. We...

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Source

Identifiers

PMID: 22257947
DOI: 10.1684/ejd.2011.1638

Genes

ABCA12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.PMID 22257947Read ↗

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