Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva-Reference-Cited by-同舟云学术

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Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva

Published:2018-07-10 Issue:1 Volume:60 Page:e87-e89
ISSN:0004-8380
Container-title:Australasian Journal of Dermatology
language:en
Short-container-title:Australas J Dermatol

Author:

Deng Yongqiong¹^ORCID,Wang Hong¹,Mou Yunzhu²,Zeng Qi³,Xiong Xia¹

Affiliation:

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

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ajd.12887/fullpdf

Reference10 articles.

1. Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia;Duchatelet;J. Invest. Dermatol.,2015

2. Erythrokeratodermia variabilis et progressiva;Ishida-Yamamoto;J. Dermatol.,2016

3. A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis;Terrinoni;J. Invest. Dermatol.,2004

4. Erythrokeratoderma variabilis caused by a recessive mutation in GJB3;Fuchs-Telem;Clin. Exp. Dermatol.,2011

5. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein;Gottfried;Hum. Mol. Genet.,2002

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update;Frontiers in Genetics;2022-05-23

2. The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin;International Journal of Molecular Sciences;2021-03-05

3. Clinical variability of the GJB4: c.35G > A gene variant : a study of a large Brazilian erythrokeratodermia pedigree;International Journal of Dermatology;2020-04-20

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