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TUBB3-related tubulinopathy is ultra rare and has no cure, treatment, or standard of care at this time. Patients are commonly misdiagnosed or undiagnosed for years because TUBB3 syndromes are so rare. Individuals with TUBB3 mutations often have to see a team of specialists to treat individual symptoms. These specialists rarely communicate with each other and because there is no standard of care, patients often scramble for years to find effective treatment to help with symptoms. Common symptoms of TUBB3 mutations include but are not limited to:
Pronunciation of TUBB3
You might hear TUBB3 pronounced in different ways. TUBB3 stands for beta-tubulin type 3. Tubulin is pronounced (tube-u-lin) which may cause some confusion in the pronunciation of TUBB3. Most researchers and TUBB3 Foundation pronounce TUBB3 (tub-three).
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