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Article

Autosomal dominant SLURP1 variants cause palmoplantar keratoderma and progressive symmetric erythrokeratoderma.

The British journal of dermatology - 28 Apr 2025

Jiang Xingyuan, Mortlock Ryland D, Lomakin Ivan B, Zhou Jing, Hu Ronghua, Cossio María Laura, Bunick Christopher G, Choate Keith A

Abstract excerpt

BACKGROUND: Epidermal differentiation disorders [EDDs; ichthyosis and palmoplantar keratoderma (PPK)] are heritable skin conditions characterized by localized or generalized skin scaling and erythema. OBJECTIVES: To identify novel genetic variants that cause PPK and progressive symmetric erythrokeratoderma (PSEK) phenotypes. METHODS: We performed whole-exome sequencing in a large cohort of people with EDD,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 39913669
DOI: 10.1093/bjd/ljaf049
PMCID: PMC12036768

Genes

SLURP1

Variants

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

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