TY  - GEN
AU  - Norgett,Elizabeth E
AU  - Lucke,Tom W
AU  - Bowers,Bill
AU  - Munro,Colin S
AU  - Leigh,Irene M
AU  - Kelsell,David P
TI  - Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
SN  - 0022-202X
PY  - 2006///0801
KW  - Adolescent
KW  - Amino Acids
KW  - analysis
KW  - Base Sequence
KW  - Cardiomyopathies
KW  - genetics
KW  - DNA
KW  - Desmoplakins
KW  - Fatal Outcome
KW  - Female
KW  - Genes, Dominant
KW  - Hair Diseases
KW  - Heterozygote
KW  - Humans
KW  - Keratoderma, Palmoplantar
KW  - complications
KW  - Molecular Sequence Data
KW  - Mutagenesis, Insertional
KW  - Pedigree
KW  - Skin
KW  - pathology
KW  - Ventricular Dysfunction, Left
KW  - physiopathology
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.jid.5700291
ER  -