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- W2468874687 startingPage "53" @default.
- W2468874687 abstract "Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation. As such, NF1 affords unique opportunities to define the factors that contribute to disease heterogeneity and to develop therapies personalized to a given individual (precision medicine). This review highlights the clinical features of NF1 and the use of genetically engineered mouse models to define the molecular and cellular pathogenesis of NF1-associated nervous system tumors." @default.
- W2468874687 created "2016-07-22" @default.
- W2468874687 creator A5000563525 @default.
- W2468874687 creator A5038034911 @default.
- W2468874687 creator A5065106421 @default.
- W2468874687 date "2017-01-24" @default.
- W2468874687 modified "2023-09-23" @default.
- W2468874687 title "Dissecting Clinical Heterogeneity in Neurofibromatosis Type 1" @default.
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