Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Gene...

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Detalles Bibliográficos
Autores principales: Chong, Shuk Ching, Hon, Kam Lun, Scaglia, Fernando, Chow, Chung Mo, Fu, Yu Ming, Chiu, Tor Wo, Leung, Alexander K. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183525/
https://www.ncbi.nlm.nih.gov/pubmed/32351751
http://dx.doi.org/10.1155/2020/4206348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183525/
https://www.ncbi.nlm.nih.gov/pubmed/32351751
http://dx.doi.org/10.1155/2020/4206348

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