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Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.

A CharlesworthA L HérisséN BellonS Leclerc-MercierE BourratSmail Hadj RabiaC BodemerJ P LacourChristine Chiaverini
Published in: The British journal of dermatology (2020)
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.
Keyphrases
  • genome wide
  • healthcare
  • gene expression
  • soft tissue
  • transcription factor
  • patient reported
  • wild type