Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.
Julian SchröterJan H DöringSven F GarbadeGeorg F HoffmannStefan KölkerMarkus RiesSteffen SyrbePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
The natural history of tubulinopathies is defined by the genotype and associated brain malformations. Defined data on estimated survival, diagnostic delay, and disease characteristics of TUBA1A and TUBB2B tubulinopathy will help to raise disease awareness and encourage future clinical trials to optimize genetic testing, family counseling, and supportive care.