Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families
Shaghayegh T. Beheshti, Angad Jolly, Ahmed K. Saad, Haowei Du, Lauren E. Westerfield, Chloe Munderloh, Divya Kalra, Yifan Wu, Yi Chen, Marie‐Claude Gingras, Shalini N. Jhangiani, Sarenur Yılmaz, Maha Saad Zaki, Daniel G. Calame, Davut Pehli̇van, , Jennifer Ellen Posey
The paper reports new TUBB2B variants in multiple families, expanding the clinical and molecular spectrum of tubulinopathies and highlighting phenotypic heterogeneity and dual molecular diagnoses.
Human Genetics and Genomics Advances · Jul 17, 2026Peer-reviewedGenetic & Genomic Medicine