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

Sheppard, Sarah E; Anderson, Laura Elizabeth; Sibbald, Cathryn; Cotton, Colleen; Bhoj, Elizabeth; Perman, Marissa J; Castelo-Soccio, Leslie.

Afiliación

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 en En | MEDLINE | ID: mdl-31579952

Asunto(s)

Epidermólisis Ampollosa Simple/genética; Queratina-5/genética; Mutación Puntual; Femenino; Humanos; Lactante

Palabras clave

epidermolysis bullosa; epidermolysis bullosa simplex; keratin 5; keratoconus

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Simple / Mutación Puntual / Queratina-5 Límite: Female / Humans / Infant Idioma: En Revista: Pediatr Dermatol Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

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