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

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.
PMID: 32911566 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - September 9, 2020 Category: Dermatology Authors: Charlesworth A, Hérissé AL, Bellon N, Leclerc-Mercier S, Bourrat E, Hadj-Rabia S, Bodemer C, Lacour JP, Chiaverini C Tags: Br J Dermatol Source Type: research