Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma. [electronic resource]
Producer: 20120319Description: 1087-93 p. digitalISSN:- 1861-0692
- Age of Onset
- Base Sequence
- Cardiomyopathies -- diagnosis
- Cardiomyopathy, Dilated
- Child
- Child, Preschool
- DNA Mutational Analysis
- Desmoplakins -- genetics
- Fatal Outcome
- Frameshift Mutation
- Genetic Predisposition to Disease
- Hair Diseases -- diagnosis
- Heart Failure -- genetics
- Homozygote
- Humans
- Isolated Noncompaction of the Ventricular Myocardium -- diagnosis
- Keratoderma, Palmoplantar -- diagnosis
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Sequence Deletion
- Severity of Illness Index
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Publication Type: Case Reports; Journal Article
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