No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

Abstract

Neurofibromatosis type 1 (NF1) is a common monogenic disorder whereby affected individuals are predisposed to developing CNS tumors, including optic pathway gliomas (OPGs, occurring in ~15 to 20 % of cases). So far, no definite genotype–phenotype correlation determining NF1 patients at risk for tumor formation has been described, although enrichment for… (More)
DOI: 10.1007/s00439-016-1646-x

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