Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

N. Dinani; M. Ali; L. Liu; J. McGrath; J. Mellerio

doi:10.1111/ced.13049

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

N. Dinani, M. Ali, L. Liu, J. McGrath, J. Mellerio

Department of Dermatology

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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.

Original language	English
Pages (from-to)	316-319
Number of pages	4
Journal	Clinical and Experimental Dermatology
Volume	42
Issue number	3
DOIs	https://doi.org/10.1111/ced.13049
Publication status	Published - 2017 Apr 1

All Science Journal Classification (ASJC) codes

Dermatology

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10.1111/ced.13049

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title = "Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma",

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.",

author = "N. Dinani and M. Ali and L. Liu and J. McGrath and J. Mellerio",

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AU - Dinani, N.

AU - Ali, M.

AU - Liu, L.

AU - McGrath, J.

AU - Mellerio, J.

PY - 2017/4/1

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N2 - 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.

AB - 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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Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

Abstract

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