Always granting that de novo mutations are possible, family history and biological characteristics are nonetheless crucial for the diagnosis of monogenic diabetes. We report here the case of two patients with monogenic diabetes in which the initial family history misled the diagnostic work-up and did not support the diagnosis. Family history details changed substantially after the molecular diagnosis was established.
|Publication status||Published - 1 Jul 2013|
- Family history
- Hepatic nuclear factor-1ß
- Monogenic diabetes