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
EE
Lucke
Tom W
TW
Bowers
Bill
B
Munro
Colin S
CS
Leigh
Irene M
IM
Kelsell
David P
DP
D000293:Adolescent; D000596:Amino Acids / Q000032:analysis; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics* / Q000503:physiopathology; D004247:DNA / Q000032:analysis / Q000235:genetics; D051180:Desmoplakins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006201:Hair Diseases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D010375:Pedigree; D012867:Skin / Q000473:pathology; D018487:Ventricular Dysfunction, Left / Q000503:physiopathology
D000596:Amino Acids; D051180:Desmoplakins; D004247:DNA