Article
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Human genetics - 1 May 2016
Hutter Sonja, Piro Rosario M, Waszak Sebastian M, Kehrer-Sawatzki Hildegard, Friedrich Reinhard E, Lassaletta Alvaro, Witt Olaf, Korbel Jan O, Lichter Peter, Schuhmann Martin U, Pfister Stefan M, Tabori Uri, Mautner Victor F, Jones David T W
Abstract excerpt
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 mutations in the 5' region of the NF1 gene in OPG patients...
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