A new study has identified variation in the gene SATB1 which has been shown to cause a rare genetic syndrome. Advances in DNA sequencing have uncovered three classes of mutations within the gene SATB1, which result in three variations of a neurodevelopmental disorder with varying symptoms ranging from epilepsy to muscle tone abnormalities. The study, [ ]
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Saturday 6 March 2021
healtheuropa - 1 month ago
Researchers identify rare genetic syndrome caused by gene mutations
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