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Article

Novel mutations in DSG1 causing striate palmoplantar keratoderma.

Clinical and experimental dermatology - 1 Mar 2009

Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E

Abstract excerpt

BACKGROUND: Striate palmoplantar keratoderma (SPPK) has been shown to be caused by mutations in at least three genes: DSG1, DSP and KRT1. METHODS: Three families with nine affected members were assessed using a candidate gene-based screening approach. RESULTS: In all three families, new heterozygous mutations were found in DSG1. CONCLUSION: Direct sequencing of cDNA derived from affected skin in one patient...

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Source

Identifiers

PMID: 19018793
DOI: 10.1111/j.1365-2230.2008.02733.x

Genes

DSG1
DSP
KRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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