Article
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Acta dermato-venereologica - 1 May 2016
Giehl Kathrin A, Herzinger Thomas, Wolff Hans, Sárdy Miklós, von Braunmühl Tanja, Dekeuleneer Valérie, Sznajer Yves, Tennstedt Dominique, Boes Pascaline, Rapprich Stefan, Wagner Nicola, Betz Regina C, Braun-Falco Markus, Strom Tim, Ruzicka Thomas, Eckstein Gertrud N
Abstract excerpt
Punctate palmoplantar keratoderma (PPKP1; Buschke-Fischer-Brauer) is a rare autosomal dominant inherited skin disease characterized by multiple hyperkeratotic papules involving the palms and soles. Mutations have been found at 2 loci, on chromosomes 15q22-15q24 and 8q24.13-8q24.21. We recently identified mutations in 3 families, in the AAGAB gene on 15q, which encodes the alpha- and gamma-adaptin-binding protein...
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