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...

Descripción completa

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

Internet

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

Ejemplares similares