Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
Pediatr Dermatol
; 36(6): 1007-1009, 2019 Nov.
Article
em En
| MEDLINE
| ID: mdl-31579952
ABSTRACT
Epidermolysis bullosa simplex (EBS) is a skin fragility disorder resulting from mutations of structural proteins in the epidermis. We provide a brief report of long-term survival and reproduction in a mother with EBS due to keratin 5 (KRT5) c.1429G > A (p.E477K) mutation, which causes a particularly severe form of the disease.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epidermólise Bolhosa Simples
/
Mutação Puntual
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Queratina-5
Limite:
Female
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Humans
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Infant
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article