GJB3基因纯合突变致可变性红斑角化症一例

doi:10.35541/cjd.20190506

Chinese Journal of Dermatology ›› 2020, Vol. 53 ›› Issue (11): 936-937.doi: 10.35541/cjd.20190506

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A case of erythrokeratoderma variabilis caused by a homozygous mutation in the GJB3 gene

Zhang Ying, Chen Hao, Sun Jianfang

Department of Pathology, Hospital for Skin Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China

Received:2019-04-16 Revised:2020-01-17 Online:2020-11-15 Published:2020-11-03
Contact: Sun Jianfang E-mail:fangmin5758@aliyun.com
Supported by:
CAMS Innovation Fund for Medical Sciences （CIFMS-2017-I2M-1-017）; PUMC Youth Fund （3332017168）

Abstract

Zhang Ying, Chen Hao, Sun Jianfang. A case of erythrokeratoderma variabilis caused by a homozygous mutation in the GJB3 gene[J]. Chinese Journal of Dermatology, 2020, 53(11): 936-937.doi:10.35541/cjd.20190506

References ［7］

［1］	王雯. 可变性红斑角化症一家系GJB3和GJB4基因突变研究［D］. 合肥: 安徽医科大学, 2012.
［2］	Ishida⁃Yamamoto A. Erythrokeratodermia variabilis et progressiva［J］. J Dermatol, 2016,43（3）:280⁃285. doi: 10.1111/1346⁃8138. 13220.
［3］	Li C, Liang J, Chen P, et al. Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva［J］. Mol Genet Genomic Med, 2019,7（6）:e670. doi: 10.1002/mgg3.670.
［4］	Deng Y, Wang H, Mou Y, et al. Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva［J］. Australas J Dermatol, 2019,60（1）:e87⁃e89. doi: 10.1111/ajd.12887.
［5］	周欣, 任军, 田歆, 等. 二例可变性红斑角化症患者GJB3、4基因突变研究［J］. 中华皮肤科杂志, 2012,45（2）:129⁃130. doi: 10.3760/cma.j.issn.0412⁃4030.2012.02.021.
［6］	刘红, 付希安, 张福仁. 4例可变性红斑角化症的基因突变检测［J］. 中国麻风皮肤病杂志, 2011,27（5）:304⁃306. doi: 10.3969/j.issn.1009⁃1157.2011.05.003.
［7］	张晓岚, 陈洋, 李久宏, 等. 一特殊的可变性红斑角化症家系的研究［J］. 中国医科大学学报, 2011,40（2）:184⁃187.

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A case of erythrokeratoderma variabilis caused by a homozygous mutation in the GJB3 gene

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