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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Vydáno v:Case Rep Pediatr
Hlavní autoři: Chong, Shuk Ching, Hon, Kam Lun, Scaglia, Fernando, Chow, Chung Mo, Fu, Yu Ming, Chiu, Tor Wo, Leung, Alexander K. C.
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7183525/
https://ncbi.nlm.nih.gov/pubmed/32351751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/4206348
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