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Gene Linked to Facial, Skull and Cognitive Impairment Identified, Medical College of Georgia Study



7/6/2012 7:15:52 AM

A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists. They looked at patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities such as a small head and chin and intellectual disability, and found the gene PHF21A was mutated, said Dr. Hyung-Goo Kim, molecular geneticist at the Medical College of Georgia at Georgia Health Sciences University.

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