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- W159941293 abstract "Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition frequently described as a neurocutaneous disorder. The prototypical findings of NF1 include café-au-lait macules, neurofibromas, axillary or groin frecklings, optic pathway tumors, Lisch nodules (benign hamartomas of the iris), and unique dysplastic skeletal findings (long bone bowing/pseudarthrosis and/or sphenoid wing dysplasia). This genetic condition has a high degree of clinical variability, with affected members of the same family sometimes displaying significantly different clinical manifestations. It is, however, fully penetrant in adults. NF1 affects individuals without predilection to ethnicity or gender. The NF1 gene was cloned by the mapping approach, and its DNA sequence encodes a peptide, neurofibromin, that has homology to p21Ras GTPase-activating proteins. The role neurofibromin plays in Ras signal transduction suggests a mechanism for its pathophysiology and approaches to the development of rational therapy for this disorder." @default.
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- W159941293 date "2009-01-01" @default.
- W159941293 modified "2023-09-27" @default.
- W159941293 title "Neurofibromatosis Type 1: Molecular and Cellular Biology" @default.
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- W159941293 doi "https://doi.org/10.1016/b978-008045046-9.00596-9" @default.
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