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Article

Structural and molecular pathology of the heart in Carvajal syndrome.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology - 1 Jan 2000

Kaplan Starr R, Gard Joseph J, Carvajal-Huerta Luis, Ruiz-Cabezas Juan C, Thiene Gaetano, Saffitz Jeffrey E

Abstract excerpt

BACKGROUND: Carvajal syndrome is a familial cardiocutaneous syndrome consisting of woolly hair, palmoplantar keratoderma, and heart disease. It is caused by a recessive deletion mutation in desmoplakin, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton. The pathology of Carvajal syndrome has not been described. METHODS: Here, we report the first...

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Identifiers

PMID: 14761782
DOI: 10.1016/S1054-8807(03)00107-8

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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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