Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. [electronic resource]
Producer: 20100416Description: 968-78 p. digitalISSN:- 1523-1747
- Abnormalities, Multiple -- genetics
- Adolescent
- Dental Enamel -- abnormalities
- Desmoplakins -- chemistry
- Desmosomes -- pathology
- Family Health
- Fatal Outcome
- Female
- Hair -- abnormalities
- Heart Defects, Congenital -- genetics
- Heterozygote
- Humans
- Keratoderma, Palmoplantar, Epidermolytic -- genetics
- Mouth Mucosa -- pathology
- Mutation, Missense
- Nail Diseases -- genetics
- Phenotype
- Protein Structure, Tertiary
- Skin Abnormalities -- genetics
- Tooth Abnormalities -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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