Novel variant c.7795-1G>A of COL7A1 gene in a 12-month-old female child with recessive dystrophic epidermolysis bullosa treated with dupilumab.

Caroppo, Francesca; Cassalia, Fortunato; Milan, Elisa; Belloni Fortina, Anna

Caroppo, Francesca; Cassalia, Fortunato; Milan, Elisa; Belloni Fortina, Anna.

Afiliación

Caroppo F; Dermatology Unit, Department of Medicine, University of Padua, Padua, Italy.
Cassalia F; Department of Women and Children's Health, Pediatric Dermatology Regional Center, University of Padua, Padua, Italy.
Milan E; European Reference Network for Rare Skin Disorders- ERN Skin, Department of Women's and Children's Health, University of Padua, Padua, Italy.
Belloni Fortina A; Dermatology Unit, Department of Medicine, University of Padua, Padua, Italy.

JAAD Case Rep ; 50: 79-81, 2024 Aug.

Article en En | MEDLINE | ID: mdl-39070923

Palabras clave

DEB; EB; congenital diseases; dystrophic epidermolysis bullosa; epidermolysis bullosa; genetic diseases; mutation; rare skin diseases

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JAAD Case Rep Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

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