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Study demonstrates efficacy of new treatment for neurofibromatosis type 1-related tumors
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Study demonstrates efficacy of new treatment for neurofibromatosis type 1-related tumors

by  Children’s Hospital of Philadelphia Credit: CC0 Public Domain Based on preclinical studies of an investigational drug to treat peripheral nerve tumors, researchers at Children’s Hospital of Philadelphia (CHOP) as part of the Neurofibromatosis Clinical Trials Consortium have shown that the drug, cabozantinib, reduces tumor volume and pain in patients with the genetic disorder neurofibromatosis type 1 (NF1)....

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Enlarged genotype-phenotype correlation for a deletion in neurofibromatosis type 1

Examination of a larger group of patients extends the clinical manifestations first described 11 years ago for this three-base pair deletion UNIVERSITY OF ALABAMA AT BIRMINGHAM BIRMINGHAM, Ala. – International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base-pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people...