Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

Br J Dermatol. 2016 Feb;174(2):430-2. doi: 10.1111/bjd.13931. Epub 2015 Nov 12.

Authors

A Abdul-Wahab¹, T Takeichi^{1

2}, L Liu³, D Lomas⁴, B Hughes⁵, M Akiyama², J A McGrath¹, J E Mellerio^{1

4}

Affiliations

¹ St John's Institute of Dermatology, King's College London (Guy's Campus), London, U.K.
² Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
³ Viapath, St Thomas' Hospital, London, U.K.
⁴ Department of Dermatology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, U.K.
⁵ Department of Dermatology, Portsmouth Hospitals Trust, Portsmouth, U.K.

PMID: 26032342
DOI: 10.1111/bjd.13931

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aquaporin 5 / genetics*
Female
HapMap Project
Haplotypes
Humans
Keratoderma, Palmoplantar, Diffuse / genetics*
Male
Mutation, Missense / genetics*
Pedigree
Polymorphism, Single Nucleotide / genetics*

Substances

Aquaporin 5

Supplementary concepts

Palmoplantar Keratoderma, Nonepidermolytic