Palmoplantar keratoderma Bothnia type with acrokeratoelastoidosis-like features due to AQP5 mutations
Author:
Affiliation:
1. Department of Dermatology; Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; Beijing 100034 China
2. Department of Dermatology; Peking University Third Hospital; Beijing China
Funder
National Natural Science Foundation of China
Beijing Nova Program
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13747/fullpdf
Reference4 articles.
1. Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type;Cao;J Invest Dermatol,2014
2. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma;Blaydon;Am J Hum Genet,2013
3. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24: literature survey and proposed updated classification of the keratodermas;Stevens;Arch Dermatol,1996
4. Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5;Abdul-Wahab;Br J Dermatol,2015
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1. A Case of Palmoplantar Keratoderma, Bothnian Type with <i>AQP5 </i>Mutation;The Nishinihon Journal of Dermatology;2024-02-01
2. Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype;Genes;2022-12-14
3. Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases;International Journal of Molecular Sciences;2022-08-24
4. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03
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