Neurofibromatosis type 1 – Primary Steps for Primary Care


Neurofibromatosis (NF) type 1 is a common genetic disorder, occurring in one out of 2,700 people.  It is inherited as an autosomal dominant, fully penetrant genetic disorder, though 50% of new presenters are de novo mutations. The genetic abnormality arises from the neurofibromin gene on chromosome 17 which, when intact, suppresses tumor growth.  How is … Continue reading Neurofibromatosis type 1 – Primary Steps for Primary Care