Maruthappu, T <br/><br/>
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.  [electronic resource] 

 -  The British journal of dermatology  05 2019 
 - 1114-1122 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1365-2133 
<br/><br/><label>Standard No.: </label>10.1111/bjd.17388  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Aged<br/>Aged, 80 and over<br/>Cardiomyopathies--diagnosis<br/>Cardiomyopathy, Dilated<br/>DNA Mutational Analysis<br/>Desmoplakins--genetics<br/>Female<br/>Hair Diseases--diagnosis<br/>Heart--diagnostic imaging<br/>Heterozygote<br/>Humans<br/>Keratoderma, Palmoplantar--diagnosis<br/>Loss of Function Mutation<br/>Magnetic Resonance Imaging<br/>Male<br/>Middle Aged<br/>Pedigree<br/>Protein Isoforms--genetics<br/>Skin--pathology<br/>Young Adult