Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation

Erythrokeratoderma Variabilis (EKV) is a rare genodermatosis, characterized by variable erythematous and hyperkeratotic skin lesions. It is most often transmitted in autosomal dominant manner (AD). Casual mutations were found in the GJB3 and GJB4 genes encoding connexins 31 and 30.3, respectively. W...

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Detalles Bibliográficos
Autores principales: Shah, M., Baral, S., Adhikari, R. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060094/
https://www.ncbi.nlm.nih.gov/pubmed/35663771
http://dx.doi.org/10.1002/ski2.63

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060094/
https://www.ncbi.nlm.nih.gov/pubmed/35663771
http://dx.doi.org/10.1002/ski2.63

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