Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Author:

Evans D G,Trueman L,Wallace A,Collins S,Strachan T

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Central neurofibromatosis with bilateral acoustic neuroma. Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis;Kanter, W.R.; Eldridge, R.; Fabricant, R.; Allen, J.C.; Koerber, T.;Neurology,1980

2. A clinical study of type 2 neurofibromatosis. QJfMed;Evans, D.G.R.; Huson, S.M.; Donnai, D.,1992

3. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity;Parry, D.M.; Eldridge, R.; Kaiser-Kupfer, M.I.; Bouzas, E.A.; Pikus, A.; Patronas, N.;Am J Med Genet,1994

4. Health Consensus Development Conference Statement on Neurofibromatosis;National Institutes of;Neurofibromatosis Res Newsl,1987

5. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2;Rouleau, G.A.; Merel, P.; Lutchman, M.;Nature,1993

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