Frameshift mutation in the V2 domain of keratin 1 causes the striate form of palmoplantar keratoderma
Whittock NV, et al. Frameshift mutation in the V2 domain of keratin 1 causes the striate form of palmoplantar keratoderma. J Invest Dermatol 2002;118:838
A case of hyperkeratosis palmoplantaris striata combined with pili torti, hypohidrosis, hypodontia and hypoacusis
Egelund E, Frentz G. A case of hyperkeratosis palmoplantaris striata combined with pili torti, hypohidrosis, hypodontia and hypoacusis. Acta Otolaryngol 1982;94:571
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 EE, et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol 2006;126:1651
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C
Van Steensel MAM, et al. New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C. Br J Dermatol 2002;147:575
Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
Hennies HC, et al. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster. Hum Mol Genet 1995;4:1015
Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network
Wan H, et al. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Br J Dermatol 2004;150:878