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Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.
Charlesworth, A; Hérissé, A L; Bellon, N; Leclerc-Mercier, S; Bourrat, E; Hadj-Rabia, S; Bodemer, C; Lacour, J P; Chiaverini, C.
Afiliação
  • Charlesworth A; Department of Dermatology, Referral center for genodermatoses, Centre Hospitalier Universitaire de Nice, Nice, France.
  • Hérissé AL; Department of Dermatology, Referral center for genodermatoses, Centre Hospitalier Universitaire de Nice, Nice, France.
  • Bellon N; Department of Dermatology, Referral center for genodermatosesMAGEC, Necker Enfants Malades Hospital, Paris, France.
  • Leclerc-Mercier S; Department of Dermatology, Referral center for genodermatosesMAGEC, Necker Enfants Malades Hospital, Paris, France.
  • Bourrat E; Department of Dermatology, Referral center for genodermatosesMAGEC Saint Louis Hospital APHP Paris, Paris, France.
  • Hadj-Rabia S; Department of Dermatology, Referral center for genodermatosesMAGEC, Necker Enfants Malades Hospital, Paris, France.
  • Bodemer C; Department of Dermatology, Referral center for genodermatosesMAGEC, Necker Enfants Malades Hospital, Paris, France.
  • Lacour JP; Department of Dermatology, Referral center for genodermatoses, Centre Hospitalier Universitaire de Nice, Nice, France.
  • Chiaverini C; Department of Dermatology, Referral center for genodermatoses, Centre Hospitalier Universitaire de Nice, Nice, France.
Br J Dermatol ; 2020 Sep 10.
Article em En | MEDLINE | ID: mdl-32911566
ABSTRACT
Inherited epidermolysis bullosa defines a heterogeneous group of genodermatoses characterized by skin and/or mucosa fragility resulting in blistering. The junctional variant (JEB) is associated with mutations affecting the genes expressing the components of the dermo-epidermal junction (DEJ) [1-2]. We report 34 JEB patients with COL17A1 genetic mutations diagnosed in our Center between 1993 and 2019. Medical and biological records were collected with a standardized questionnaire.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Br J Dermatol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Br J Dermatol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França