The smallest of things can have drastic consequences. A rash gesture. A reckless statement. A moment's hesitation. Likewise, the smallest of chemical changes can be the cause of serious afflictions such as cancer, Alzheimer's disease, cystic fibrosis or haemophilia. Noonan syndrome is one such affliction and affects a newborn in one to two thousand. Typically, a Noonan child has a wide space between its eyes, is web-necked and small in stature. Unfortunately, the condition is also associated with congenital heart disease, learning problems, impaired blood clotting as well as many other features whose range and severity vary hugely in patients. Everyday, a child is born with Noonan syndrome, and one of the culprits is the tiniest of modifications which occurs on a protein known as SHOC2.
展开▼
