Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants i...
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
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Publisher
Cairo, Egypt: Hindawi Publishing Corporation
Journal title
Language
English
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Publisher
Cairo, Egypt: Hindawi Publishing Corporation
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Contents
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. Genetic studies in these patients showed that the firs...
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Full title
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
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TN_cdi_doaj_primary_oai_doaj_org_article_16590c4e3dfe428caedb744c1e47af90
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_16590c4e3dfe428caedb744c1e47af90
Other Identifiers
ISSN
2090-6803
E-ISSN
2090-6811
DOI
10.1155/2020/4206348
