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

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 GJB4 have...

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Detalles Bibliográficos
Autores principales:	Li, Changxing, Liang, Jingyao, Chen, Pingjiao, Zeng, Kang, Xue, Rujun, Tian, Xin, Liang, Liuping, Wang, Qi, Shi, Minglan, Zhang, Xibao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565561/ https://www.ncbi.nlm.nih.gov/pubmed/30924322 http://dx.doi.org/10.1002/mgg3.670

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