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The Translational Genomics Research Institute


TGen study identifies first genetic mutation associated with Aicardi syndrome

A genetic mutation in the TEAD1 gene has been identified as the first associated with Aicardi syndrome, a debilitating childhood neurological condition. The study found that children with this disorder experience severe symptoms, including seizures, retina damage, and brain abnormalities, and that boys may also be affected.

SourceThe Translational Genomics Research Institute·JournalInvestigative Ophthalmology & Visual Science·DateJun 19, 2015