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Article

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.

The British journal of dermatology - 1 Apr 2021

Lee J Y W, McGrath J A

Abstract excerpt

The desmosome is a type of intercellular junction found in epithelial cells, cardiomyocytes and other specialized cell types. Composed of a network of transmembranous cadherins and intracellular armadillo, plakin and other proteins, desmosomes contribute to cell-cell adhesion, signalling, development and differentiation. Mutations in genes encoding desmosomal proteins result in a spectrum of erosive skin and...

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Identifiers

PMID: 32593191
DOI: 10.1111/bjd.19342

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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