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Raising awareness on Rare Disease Day February 28th 2024 CTNNB1 Syndrome is a rare genetic disorder with approximately 430 known diagnoses around the world. Little Evie is one of them. CTNNB1 is the most common cause of misdiagnosed cerebral palsy. What is the CTNNB1 gene responsible for? The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues, where it is primarily found at junctions that connect neighboring cell
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