Article
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
The British journal of dermatology - 23 Jan 2024
Pacot Laurence, Sabbagh Audrey, Sohier Pierre, Hadjadj Djihad, Ye Manuela, Boland-Auge Anne, Bacq-Daian Delphine, Laurendeau Ingrid, Briand-Suleau Audrey, Deleuze Jean-François, Margueron Raphaël, Vidaud Michel, Ferkal Salah, Parfait Béatrice, Vidaud Dominique, Pasmant Eric, Wolkenstein Pierre
Abstract excerpt
BACKGROUND: Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs) and plexiform (pNFs) neurofibromas. OBJECTIVES: To identify neurofibroma modifier genes, in order to develop a database of patients with NF1. METHODS: All patients were phenotypically evaluated by a medical practitioner...
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