Germ-Line NF2 Mutations and Disease Severity in Neurofibromatosis Type 2 Patients with Retinal Abnormalities
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. Presymptomatic diagnosis of neurofibromatosis 2 using linked genetic markers, neuroimaging, and ocular examinations;Baser;Neurology,1996
2. Phenotypic variability in monozygotic twins with neurofibromatosis 2;Baser;Am J Med Genet,1996
3. Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2;Bouzas;Retina,1992
4. A clinical study of type 2 neurofibromatosis;Evans;Q J Med,1992
5. Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease caused by truncating mutations;Evans;J Med Genet,1998
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