Neurofibromatosis type 2 is caused by a change in the NF2 gene located on chromosome 22. This gene encodes a protein known as merlin. Mutations in the NF2 gene disrupt the function of merlin, which is ...

Neurofibromatosis type 2 is most often diagnosed based on the presence of physical symptoms that are part of the specific diagnostic criteria for the disorder. Genetic testing for the NF2 mutation is ...

RECKGIST score may predict recurrence in neurofibromatosis type 1 GISTs, potentially guiding treatment decisions, according ...

Healx has dosed the first subject in the open-label Phase II INSPIRE-NF1 trial to assess the efficacy and safety of HLX-1502 in individuals with neurofibromatosis type 1 (NF1), a rare genetic ...

a Phase 2 trial evaluating the safety and efficacy of HLX-1502, an oral investigational therapy, in patients with neurofibromatosis type 1 (NF1). NF1 is a debilitating rare genetic disorder that ...