Norgett, Elizabeth E <br/><br/>
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.  [electronic resource] 

 -  The Journal of investigative dermatology  Jul 2006 
 - 1651-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0022-202X 
<br/><br/><label>Standard No.: </label>10.1038/sj.jid.5700291  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acids--analysis<br/>Base Sequence<br/>Cardiomyopathies--genetics<br/>DNA--analysis<br/>Desmoplakins--genetics<br/>Fatal Outcome<br/>Female<br/>Genes, Dominant--genetics<br/>Hair Diseases--genetics<br/>Heterozygote<br/>Humans<br/>Keratoderma, Palmoplantar--complications<br/>Molecular Sequence Data<br/>Mutagenesis, Insertional<br/>Pedigree<br/>Skin--pathology<br/>Ventricular Dysfunction, Left--physiopathology