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pubmed-article:14761782pubmed:abstractTextCarvajal 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.lld:pubmed
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pubmed-article:14761782pubmed:articleTitleStructural and molecular pathology of the heart in Carvajal syndrome.lld:pubmed
pubmed-article:14761782pubmed:affiliationDepartment of Pathology and the Center for Cardiovascular Research, Washington University School of Medicine, Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA.lld:pubmed
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