Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

• मुख्य लेखकों: Peiwei Chai (लेखक), Yingxiu Luo (लेखक), Chuandi Zhou (लेखक), Yefei Wang (लेखक), Xianqun Fan (लेखक), Renbing Jia (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not been reported. Methods The medical charts of 26 Chinese patients wit...