A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations

Background Epidermolysis bullosa simplex (EBS) is a rare genodermatosis resulting from multiple gene mutations, including KRT5 and KRT14. The clinical expression of the mechanobullous skin fragility disease has not been fully explained by the genotype. Case Description An 11-day-old Japanese newborn...

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Detalles Bibliográficos
Autores principales: Wakiguchi, Hiroyuki, Hasegawa, Shunji, Maeba, Shinji, Kimura, Sasagu, Ito, Satoko, Tateishi, Hiroshi, Ueda, Kazuhiro, Ohga, Shouichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical Publishers 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769090/
https://www.ncbi.nlm.nih.gov/pubmed/26929861
http://dx.doi.org/10.1055/s-0035-1570386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769090/
https://www.ncbi.nlm.nih.gov/pubmed/26929861
http://dx.doi.org/10.1055/s-0035-1570386

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