NF1 microdeletion syndrome: case report of two new patients

• Váldodahkkit: Gregorio Serra (Dahkki), Vincenzo Antona (Dahkki), Giovanni Corsello (Dahkki), Federico Zara (Dahkki), Ettore Piro (Dahkki), Raffaele Falsaperla (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2019-11-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype...