Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

Abstract Background Erythrokeratodermia variabilis et progressiva (EKVP, OMIM 133200) is a rare hereditary disorder characterized by varies from transient, fast moving erythema to persistent brown hyperkeratotic plaques. Recently, mutations in the genes gap junction alpha 1 gene (GJA1), GJB3, and GJ...

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Bibliographic Details
Main Authors: Changxing Li, Jingyao Liang, Pingjiao Chen, Kang Zeng, Rujun Xue, Xin Tian, Liuping Liang, Qi Wang, Minglan Shi, Xibao Zhang
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Connexins 43
Erythrokeratodermia variabilis et progressiva
Gap junction alpha 1 gene
Online Access:https://doi.org/10.1002/mgg3.670

Internet

https://doi.org/10.1002/mgg3.670

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