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]
Producer: 20060801Description: 1651-4 p. digitalISSN:- 0022-202X
- Adolescent
- Amino Acids -- analysis
- Base Sequence
- Cardiomyopathies -- genetics
- DNA -- analysis
- Desmoplakins -- genetics
- Fatal Outcome
- Female
- Genes, Dominant -- genetics
- Hair Diseases -- genetics
- Heterozygote
- Humans
- Keratoderma, Palmoplantar -- complications
- Molecular Sequence Data
- Mutagenesis, Insertional
- Pedigree
- Skin -- pathology
- Ventricular Dysfunction, Left -- physiopathology
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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