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

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

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...

Full description

Bibliographic Details
Main Authors: Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan, Renbing Jia
Format: Article
Language:English
Published: BMC 2019-09-01
Series:BMC Medical Genetics
Subjects:
Orbital neurofibromatosis
Orbital/periorbital plexiform neurofibroma (OPPN)
Neurofibromin 1 (NF1) mutation
Online Access:http://link.springer.com/article/10.1186/s12881-019-0877-9

Internet

http://link.springer.com/article/10.1186/s12881-019-0877-9

Similar Items