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DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
See this aricle in Pubmed

Article Abstract
Current practice dictates screening of all those"at risk"for NF2 with magnetic resonance imaging,but the frequency and duration of screening are problematic because of the variable course of the disease.The identification of a DNA alteration in the NF2 gene will permit predictive molecular testing of individuals at risk in this specific family,sparing the expense and emotional burden or protracted screening programs.This information,by providing diagnostic certainty,should also reduce psychological and financial burdens and improve medical care for affected family members.A similar approach to defining the underlying lesion and developing a predictive test is applicable in any documented NF2 family.
 
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acoustic neurinoma
gene
genetic linkage
genetic neurologic disorders
molecular genetics
MRI
MRI,abnormal
neurofibromatosis 2
neurologic disease,diagnoses of
risk factors

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