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 ...

While the first medical treatment for neurofibromatosis (NF) was recently approved, many further options are on the horizon. "You see a massive acceleration of research and development," said Annette ...

Neurofibromatosis type 1 (NF1) is a rare genetic condition that affects how certain nerve cells grow and develop. Children with NF1 can have small growths on or under the skin called neurofibromas.

Most NF1-PNs cannot be fully removed with surgery or other treatments. Therefore, it’s important to take steps to manage the condition and reach out to others for support as you enter adulthood. Many ...

People with neurofibromatosis type 1 (NF1) develop tumors on nerves throughout their bodies. These tumors are usually benign - meaning they don't spread to other parts of the body and are not ...

The risks of 4 types of skin cancers were investigated among patients who have neurofibromatosis type 1, a multisystem autosomal dominant genetic syndrome characterized by loss of neurofibromin. Basal ...