Gene Implicated in Prader-Willi Syndrome Identified

A new study published online in the journal iNature Genetics/i began with a single patient and his parents who were in search of a diagnosis. The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease - including lack of muscle tone, feeding difficulties ...