Scientists, Parent Work Together to Identify New Genetic Disease in Children


credit: Turnbacktogod

Scientists and parents have banded together to identify a new genetic disease that results in neurologic, muscle, eye and liver problems in children.

The new disease is called NGLY1 deficiency. The description and discoveries will be published online March 20 in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics.


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