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Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family

Authors Li Z, Liu Q, Wang A, Wang H, Li C

Received 10 June 2014

Accepted for publication 16 June 2014

Published 1 September 2014 Volume 2014:10 Pages 713—715

DOI https://doi.org/10.2147/TCRM.S69128

Checked for plagiarism Yes

Zhiliang Li,1,* Qiao Liu,2,* Aimin Wang,2 Hongsheng Wang,1 Chengrang Li1

1Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, People's Republic of China; 2Hainan Provincial Hospital of Skin Disease, Hainan, People's Republic of China
  
*These authors contributed equally to this work

Epidermolytic ichthyosis is a rare genetic disorder characterized by diffuse erythroderma from the time of birth with subsequent appearance of thick, brown scales and occasional blister formation. Mutation has been found in keratin 1 (K1) and keratin 10 (K10) genes.1 Epidermolytic hyperkeratosis (EHK) is mostly inherited in a dominant mode. We report a Chinese family of EHK sufferers and their mutation findings. 

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