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Article

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.

Journal of dermatological science - 1 Mar 2009

Dua-Awereh Martha B, Shimomura Yutaka, Kraemer Liv, Wajid Muhammad, Christiano Angela M

Abstract excerpt

BACKGROUND: Striate palmoplantar keratoderma (SPPK; OMIM #148700) is a rare autosomal dominant genodermatosis characterized by linear hyperkeratosis on the digits and hyperkeratosis on the palms and soles. SPPK is known to be caused by heterozygous mutations in either the desmoglein 1 (DSG1), desmoplakin (DSP), or keratin 1 (KRT1) genes. OBJECTIVE: To define the molecular basis of SPPK in five Pakistani families...

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Source

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Identifiers

PMID: 19157795
DOI: 10.1016/j.jdermsci.2008.11.005
PMCID: PMC3986861

Genes

DSG1
DSP
KRT1

Variants

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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Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma.PMID 19157795Read ↗

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