Your browser doesn't support javascript.
loading
Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation.
Sheppard, Sarah E; Anderson, Laura Elizabeth; Sibbald, Cathryn; Cotton, Colleen; Bhoj, Elizabeth; Perman, Marissa J; Castelo-Soccio, Leslie.
Afiliação
  • Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
  • Anderson LE; Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Sibbald C; Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Cotton C; Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
  • Perman MJ; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • Castelo-Soccio L; Division of General Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Mutação Puntual / Queratina-5 Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Mutação Puntual / Queratina-5 Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article