A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive.
10.1097/CM9.0000000000000011
- Author:
Bi-Rong GUO
1
;
Hai-Bin CAI
2
;
Wen-Kai ZONG
3
;
Cong-Sheng LI
4
;
Li-Zhong LIU
1
;
Song QIAO
1
;
Qi-Ming ZHU
1
;
Ming LI
5
Author Information
1. Department of Dermatology, Third Affiliated Hospital of Anhui Medical University, First People's Hospital of Hefei, Hefei, Anhui 230061, China.
2. Department of Dermatology, People's Hospital of Pudong New Area, Shanghai 201200, China.
3. Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu 210042, China.
4. Department of Emergency, Third Affiliated Hospital of Anhui Medical University, First People's Hospital of Hefei, Hefei, Anhui 230061, China.
5. Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
- Publication Type:Journal Article
- MeSH:
Adult;
Connexin 43;
genetics;
Erythrokeratodermia Variabilis;
genetics;
Female;
Heterozygote;
Humans;
Male;
Mutation;
genetics;
Mutation, Missense;
genetics;
Pedigree
- From:
Chinese Medical Journal
2019;132(1):86-88
- CountryChina
- Language:English
