title: Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing.
authors: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: M
authors: M
authors: Kono
authors: Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors: K
authors: K
authors: Fukai
authors: Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors: N
authors: N
authors: Shimizu
authors: Division of Dermatology, Izumiotsu Municipal Hospital, Izumiotsu, Japan.
authors: J
authors: J
authors: Nagao
authors: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: T
authors: T
authors: Takeichi
authors: Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors: D
authors: D
authors: Tsuruta
authors: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: K
authors: K
authors: Sugiura
authors: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors: M
authors: M
authors: Akiyama
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics* / Q000378:metabolism; D000375:Aging / Q000235:genetics*; D001706:Biopsy; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012867:Skin / Q000473:pathology*
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport; D004247:DNA