Capillaroscopic findings in a case of Hajdu-Cheney syndrome.
Cluj-Napoca / Kolozsvár, Romania. In Osteoporos Int, Oct 2015
Hajdu-Cheney syndrome (HCS) is a very rare connective tissue disease characterized by osteoporosis, early dentition loss and a particular phenotype as a result of enhanced NOTCH2 signaling.
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Malmö, Sweden. In N Engl J Med, 2008
Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes independently of clinical risk factors; variants in 8 of these genes were associated with impaired beta-cell function.