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Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis

Hong Liu, Hong Liu, Xi-An Fu, Yong-Xiang Yu, Gui-Zhi Zhou, Xian-Mei Lu, Hong-Qing Tian, Chang-Ping Yu, Zhong-Xiang Shi, Mei-Ling Yu, Fu-Ren Zhang

Journal of Dermatology 2012, 39 (4): 400-1

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Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. D Fuchs-Telem, Y Pessach, B Mevorah, I Shirazi, O Sarig, E Sprecher Clinical and Experimental Dermatology 2011, 36 (4): 406-11

A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. W Wang, L H Liu, G Chen, M Gao, J Zhu, F S Zhou, H Cheng, H Y Tang, B Y Wu, L D Sun, S Yang, P G Wang, X J Zhang Clinical and Experimental Dermatology 2012, 37 (8): 919-21

A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis. Z-X Wang, W-S Lu, H Li, D Lin, F-S Zhou, L-D Sun, S Yang, X-J Zhang Journal of the European Academy of Dermatology and Venereology: JEADV 2011, 25 (1): 113-5

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis. Emilie Sbidian, Norredine Bousseloua, Laurence Jonard, Stéphanie Leclerc-Mercier, Christine Bodemer, Smail Hadj-Rabia Acta Dermato-venereologica 2013 March 27, 93 (2): 193-5

Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3. Haris Kokotas, Konstantina Papagiannaki, Maria Grigoriadou, Michael B Petersen, Alexandra Katsarou European Journal of Dermatology: EJD 2012, 22 (2): 182-6

Familial erythrokeratodermia variabilis with pustular lesions: a new variant? Li Zhang, Wei Huo, Xing-Hua Gao, Lei Ma, Yuhong Xiu, Song Zheng, Yuziao Hong, Hong-Duo Chen Acta Dermato-venereologica 2010, 90 (3): 274-8

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. C A Scott, E A O'Toole, M J Mohungoo, A Messenger, D P Kelsell Clinical and Experimental Dermatology 2011, 36 (1): 88-90

Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation. Shigeki Ikeya, Shoko Urano, Jun-Ichi Sakabe, Taisuke Ito, Yoshiki Tokura Journal of Dermatology 2013, 40 (5): 402-3

An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis. Martin Glatz, Maurice A M van Steensel, Michel van Geel, Peter M Steijlen, Peter Wolf Acta Dermato-venereologica 2011, 91 (6): 714-5

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. K Sugiura, M Arima, K Matsunaga, M Akiyama British Journal of Dermatology 2015, 173 (1): 309-11

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