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

• প্রধান লেখক: Peiwei Chai (লেখক), Yingxiu Luo (লেখক), Chuandi Zhou (লেখক), Yefei Wang (লেখক), Xianqun Fan (লেখক), Renbing Jia (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2019-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...