Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
Sign Up to like & getrecommendations! Published in 2019 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-019-04348-5
Abstract: PurposeTo evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed.MethodsEye… read more here.
Keywords: pathological mutations; ocular alterations; alterations molecular; three novel ... See more keywords
Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.00733
Abstract: Background and Purpose: Neurofibromatosis Type 2 (NF2) is an autosomal-dominant tumor-prone disorder characterized by the manifestations of central nervous system lesions. However, the first clinical signs of disease are often non-tumorous. Cerebrovascular insults are known… read more here.
Keywords: ischemic stroke; cerebrovascular insult; neurofibromatosis type; insult ... See more keywords