Genetic testing and screening of individuals at risk of NF2
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01816.x/fullpdf
Reference14 articles.
1. Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including.;Evans;MLPA J Med Genet,2007
2. Management of the patient and family with neurofibromatosis 2: a consensus conference statement.;Evans;Br J Neurosurg,2005
3. Paediatric presentation of type 2 neurofibromatosis.;Evans;Arch Dis Child,1999
4. Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?;Evans;Clin Genet,2007
5. What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?;Evans;J Neurosurg,2008
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3. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22;European Journal of Medical Genetics;2023-07
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