Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
Norgett, Elizabeth E
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] - The Journal of investigative dermatology Jul 2006 - 1651-4 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
0022-202X
10.1038/sj.jid.5700291 doi
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
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] - The Journal of investigative dermatology Jul 2006 - 1651-4 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
0022-202X
10.1038/sj.jid.5700291 doi
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