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Article

Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes.

The Journal of dermatology - 1 Jan 2024

Takeichi Takuya, Hamada Takahiro, Yamamoto Mayuko, Ito Yasutoshi, Kawaguchi Aya, Kobashi Haruka, Yoshikawa Takenori, Koga Hiroshi, Ishii Norito, Nakama Takekuni, Muro Yoshinao, Ogi Tomoo, Akiyama Masashi

Abstract excerpt

Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic variants in ABCA12 are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an ABCA12 variant but...

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Identifiers

PMID: 37752865
DOI: 10.1111/1346-8138.16967

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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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