Published in PLOS Genetics · View the paper (DOI)
Researchers have identified MEDNIK syndrome as a debilitating genetic disorder characterized by mental retardation, enteropathy, deafness, and other symptoms. The AP1S1 gene mutation is found to cause impairment of neural networks, including the spinal cord, inner ear, and brain.
Coverage from 2 institutions
- 'MEDNIK': A novel genetic syndrome PLOS · Dec 4, 2008 · first to report
- Discovery of a debilitating genetic syndrome University of Montreal Hospital Research Centre (CRCHUM) · Dec 4, 2008