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This Concept Map, created with IHMC CmapTools, has information related to: Neurofibromatosis, Many de novo mutations as in Segmental Neurofibromatosis, Variable expression ranging from Cafe Au Lait spots only, Neurofibromatosis type I characterized by Variable expression, Neurofibromatosis type I characterized by 100% Penetrance, Segmental Neurofibromatosis a subset of Neurofibromatosis type I, Neurofibromatosis type I diagnosed by Analysis of abnormal products, Neurofibromin acts as Tumor suppressor, High rate of mutation due to Size of gene, Neurofibromatosis type I diagnosed by DNA sequencing, Variable expression ranging from Hundreds of tumors, growth defects, etc., NF1 gene encodes Neurofibromin, Size of gene results in Many de novo mutations, NF1 gene has High rate of mutation, Neurofibromatosis type I diagnosed by Cytogenetic analysis