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  • Title: Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
    Author: Dinani N, Ali M, Liu L, McGrath J, Mellerio J.
    Journal: Clin Exp Dermatol; 2017 Apr; 42(3):316-319. PubMed ID: 28239884.
    Abstract:
    Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.
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