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Published 2012 | Version v1.0.0
Journal Article Open

Atypical Face Shape and Genomic Variants in Epilepsy


Researchers at the Institute of Neurology, Queen Square, London; Childrens Hospital, Florence, Italy; and other centers in the UK, Belgium, and the Netherlands studied face shape abnormalities in 118 children and adults attending three European epilepsy clinics, using an objective measure called Face Shape Difference to show that those with pathogenic structural variants have a significantly atypical face shape.


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March 30, 2023
March 30, 2023