Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities.
Baser
M E
ME
Kluwe
L
L
Mautner
V F
VF
D000293:Adolescent; D000328:Adult; D005091:Exons / Q000235:genetics; D016515:Genes, Neurofibromatosis 2; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006222:Hamartoma / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D016518:Neurofibromatosis 2 / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology