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

• Główni autorzy: Peiwei Chai (Autor), Yingxiu Luo (Autor), Chuandi Zhou (Autor), Yefei Wang (Autor), Xianqun Fan (Autor), Renbing Jia (Autor)
• Format: Książka
• Wydane: BMC, 2019-09-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...