Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

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Bibliographic Details
Published in:	Journal of investigative dermatology Vol. 126; no. 7; pp. 1651 - 1654
Main Authors:	Norgett, Elizabeth E., Lucke, Tom W., Bowers, Bill, Munro, Colin S., Leigh, Irene M., Kelsell, David P.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-07-2006 Elsevier Limited
Subjects:	Adolescent Amino Acids - analysis Base Sequence Cardiomyopathies - genetics Cardiomyopathies - physiopathology Desmoplakins - genetics DNA - analysis DNA - genetics Fatal Outcome Female Genes, Dominant - genetics Hair Diseases - genetics Heterozygote Humans Keratoderma, Palmoplantar - complications Keratoderma, Palmoplantar - genetics Keratoderma, Palmoplantar - physiopathology Molecular Sequence Data Mutagenesis, Insertional Pedigree Skin - pathology Ventricular Dysfunction, Left - physiopathology
Online Access:	Get full text
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Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23
ISSN:	0022-202X 1523-1747
DOI:	10.1038/sj.jid.5700291