Mahoney, My G <br/><br/>
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.  [electronic resource] 

 -  The Journal of investigative dermatology  Apr 2010 
 - 968-78 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1523-1747 
<br/><br/><label>Standard No.: </label>10.1038/jid.2009.357  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Dental Enamel--abnormalities<br/>Desmoplakins--chemistry<br/>Desmosomes--pathology<br/>Family Health<br/>Fatal Outcome<br/>Female<br/>Hair--abnormalities<br/>Heart Defects, Congenital--genetics<br/>Heterozygote<br/>Humans<br/>Keratoderma, Palmoplantar, Epidermolytic--genetics<br/>Mouth Mucosa--pathology<br/>Mutation, Missense<br/>Nail Diseases--genetics<br/>Phenotype<br/>Protein Structure, Tertiary<br/>Skin Abnormalities--genetics<br/>Tooth Abnormalities--genetics