Literature DB >> 25763536

First Mal de Meleda report in Chinese Mainland: two families with a recurrent homozygous missense mutation in SLURP-1.

J Zhang1, R Cheng1, C Ni1, J Liang1, M Li1, Z Yao1.   

Abstract

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Year:  2015        PMID： 25763536     DOI： 10.1111/jdv.13038

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  4 in total

1.  Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.

Authors:  Liisa Harjama; Kaisa Kettunen; Outi Elomaa; Elisabet Einarsdottir; Hannele Heikkilä; Sirpa Kivirikko; Katriina Lappalainen; Janna Saarela; Caroline Alby; Annamari Ranki; Juha Kere; Smail Hadj-Rabia; Katariina Hannula-Jouppi
Journal:  Acta Derm Venereol       Date:  2020-02-25       Impact factor: 3.875

2.  Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Authors:  Abida Akbar; Claire Prince; Chloe Payne; James Fasham; Wasim Ahmad; Emma L Baple; Andrew H Crosby; Gaurav V Harlalka; Asma Gul
Journal:  BMC Med Genet       Date:  2019-08-23       Impact factor: 2.103

3.  Nagashima-type palmoplantar keratosis in a Chinese Han population.

Authors:  Jia Zhang; Guolong Zhang; Cheng Ni; Ruhong Cheng; Jianying Liang; Ming Li; Zhirong Yao
Journal:  Mol Med Rep       Date:  2016-09-21       Impact factor: 2.952

4.  A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China.

Authors:  Yun Pan; Hengguang Zhao; Aijun Chen; Xin Huang
Journal:  Medicine (Baltimore)       Date:  2017-09       Impact factor: 1.889
  4 in total

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