NF1 microdeletion syndrome: case report of two new patients

• मुख्य लेखकों: Gregorio Serra (लेखक), Vincenzo Antona (लेखक), Giovanni Corsello (लेखक), Federico Zara (लेखक), Ettore Piro (लेखक), Raffaele Falsaperla (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...