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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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Detalhes bibliográficos
Publicado no:AJP Rep
Main Authors: Wakiguchi, Hiroyuki, Hasegawa, Shunji, Maeba, Shinji, Kimura, Sasagu, Ito, Satoko, Tateishi, Hiroshi, Ueda, Kazuhiro, Ohga, Shouichi
Formato: Artigo
Idioma:Inglês
Publicado em: Thieme Medical Publishers 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4769090/
https://ncbi.nlm.nih.gov/pubmed/26929861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1570386
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