Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. [electronic resource]
Producer: 20200731Description: 1114-1122 p. digitalISSN:- 1365-2133
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Cardiomyopathies -- diagnosis
- Cardiomyopathy, Dilated
- DNA Mutational Analysis
- Desmoplakins -- genetics
- Female
- Hair Diseases -- diagnosis
- Heart -- diagnostic imaging
- Heterozygote
- Humans
- Keratoderma, Palmoplantar -- diagnosis
- Loss of Function Mutation
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Pedigree
- Protein Isoforms -- genetics
- Skin -- pathology
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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