Article
Neurofibromatosis type 2.
Lancet (London, England) - 6 Jun 2009
Asthagiri Ashok R, Parry Dilys M, Butman John A, Kim H Jeffrey, Tsilou Ekaterini T, Zhuang Zhengping, Lonser Russell R
Abstract excerpt
Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age. Half of patients inherit a germline mutation from an affected parent and the remainder acquire a de novo mutation for neurofibromatosis type 2. Patients...
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