Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
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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