Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.

@article{Hadfield2008MolecularCO,
  title={Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.},
  author={Kristen D. Hadfield and William G Newman and Naomi L. Bowers and Andrew James Wallace and Ciaran Bolger and A. Colley and Emma McCann and Dorothy Trump and Trine Prescott and D Gareth R Evans},
  journal={Journal of medical genetics},
  year={2008},
  volume={45 6},
  pages={
          332-9
        }
}
BACKGROUND Schwannomatosis is a rare condition characterised by multiple schwannomas and lack of involvement of the vestibular nerve. A recent report identified bi-allelic mutations in the SMARCB1/INI1 gene in a single family with schwannomatosis. We aimed to establish the contribution of the SMARCB1 and the NF2 genes to sporadic and familial schwannomatosis in our cohort. METHODS We performed DNA sequence and dosage analysis of SMARCB1 and NF2 in 28 sporadic cases and 15 families with… CONTINUE READING
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