Familial diarrhea syndrome caused by an activating GUCY2C mutation
Familial diarrhea syndrome caused by an activating GUCY2C mutation
Familial diarrhea disorders are, in most cases, severe and caused by recessive mutations. We describe the cause of a novel dominant disease in 32 members of a Norwegian family. The affected members have chronic diarrhea that is of early onset, is relatively mild, and is associated with increased susceptibility to inflammatory bowel disease, small-bowel obstruction, and esophagitis.
Publication Date:
26/04/2012
366
17
1586-1595