Cystic Fibrosis - CF

Cystic fibrosis (CF) is caused by the presence of two severe pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on opposite chromosomes; over 2,000 different CFTR variants have been reported, but most are very rare and of unknown significance. CF is typically associated with recurrent pulmonary infections and exocrine pancreatic insufficiency.

Tabs Content

Content Review: 
May 2017

Last Update: March 2018