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Neurofibromatosis type I is caused by a mutation of the NF-1 gene on what chromosome?
17

17 letters in "von Recklinghausen" disease
What is the mode of inheritance of NF-1?
AD
What are the clinical findings of NF-1?
  • cafe-au-lait spots
  • diffuse neurofibromas
  • optic nerve gliomas - may cause vision loss
  • Lisch nodules - pigmented hamartomas of the iris
  • scoliosis, sphenoid dysplasia, and other bony abnormalities
  • other associated tumors: meningiomas, gliomas, pheochromocytomas
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