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Article

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.

Journal of cutaneous pathology - 1 May 2009

Asimaki Angeliki, Syrris Petros, Ward Deirdre, Guereta Luis G, Saffitz Jeffrey E, McKenna William J

Abstract excerpt

BACKGROUND: Desmoplakin plays a vital role in cell adhesion, linking the transmembrane desmosomal complex to the cytoskeletal network. Clues to the biological significance of desmoplakin have emerged from the embryonic lethal phenotype of null mice and from naturally occurring human desmoplakin mutations, which cause cardiocutaneous phenotypes. INDEX CASE: In this study, we describe a child who presented with the...

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Source

Identifiers

PMID: 19178614
DOI: 10.1111/j.1600-0560.2008.01112.x

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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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