X-Nico

unusual facts about neurofibromatosis



Crowe

Crowe sign, or Crowe's sign, a medical sign that is used in the diagnosis of neurofibromatosis

Expressivity

Another example is neurofibromatosis, where patients with the same genetic mutation show different signs and symptoms of the disease.

Gastrointestinal stromal tumor

These include, in descending order of frequency, neurofibromatosis Recklinghausen (NF-1), Carney's triad (gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma), germline gain-of-function mutations in c-Kit/PDGFRA, and the Carney-Stratakis syndrome.


see also