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von Recklinghausen's disease
(redirected from Neurofibromatosis type I)

   Also found in: Medical, Wikipedia 0.01 sec.
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Noun1.von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome


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KEY WORDS: neurofibromatosis type I, glioma, glioblastoma, pirfenidone, epidermal growth factor receptor DISCLOSURES: This work was supported in part by Neurofibromatosis Inc.
[2-4] Multiple gastrointestinal stromal tumors have been encountered in patients with MEN IIb syndrome, Carney triad, or neurofibromatosis type I.
 
 
 
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