Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva
Australas J Dermatol
.
2019 Feb;60(1):e87-e89.
doi: 10.1111/ajd.12887.
Epub 2018 Jul 10.
Authors
Yongqiong Deng
1
,
Hong Wang
1
,
Yunzhu Mou
2
,
Qi Zeng
3
,
Xia Xiong
1
Affiliations
1
Department of Dermatology & STD, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
2
Department of Dermatology & STD, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
3
Pediatric Department, Peking University First Hospital, Beijing, China.
PMID:
29992552
PMCID:
PMC6585696
DOI:
10.1111/ajd.12887
No abstract available
Publication types
Letter
MeSH terms
Connexins / genetics*
Erythrokeratodermia Variabilis / genetics*
Exome Sequencing
Female
Heterozygote
Humans
Male
Middle Aged
Mutation
Pedigree
Phenotype
Substances
Connexins
GJB3 protein, human