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Neurofibromatosis

GeneticNF1 gene mutation1882 (described by von Recklinghausen)Inherited (autosomal dominant)
TypeGenetic
CauseNF1 gene mutation
First Known1882 (described by von Recklinghausen)
TransmissionInherited (autosomal dominant)

About Neurofibromatosis

The Elephant Man was long mislabeled with it. Causes cafe au lait skin patches and benign nerve tumors. Affects about 1 in 3,000. Half of cases arise from new mutations. Tumors can compress nerves and organs.

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