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

@article{Evans1998GenotypephenotypeCI,
  title={Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.},
  author={D Gareth R Evans and Lisa Trueman and A J Wallace and Stephan Collins and T. Strachan},
  journal={Journal of medical genetics},
  year={1998},
  volume={35 6},
  pages={450-5}
}
Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene. A further 17 families fulfilling modified criteria for NF2 have also been analysed. Causative mutations have been identified in 54 (43%) classical families and six (35%) of those fulfilling modified criteria. Forty-two cases from 38 families with truncating mutations had an average age at onset of symptoms of 19 years and… CONTINUE READING

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