Defining the phenotypical spectrum associated with variants in TUBB2A.
Stefanie BrockTim VanderhasseltSietske VermaningKathelijn KeymolenLuc RégalLudovica PascaDagmar WieczorekTim Matthias StormKarin SchaeferhoffUte HehrAlma KuechlerIngeborg Krägeloh-MannTobias B HaackEsmee KasteleijnRachel SchotGrazia Maria Simonetta ManciniRichard WebsterShekeeb MohammadRichard J LeventerGhayda MirzaaWilliam B DobynsNadia Bahi-BuissonMarije MeuwissenAnna C JansenKatrien StouffsPublished in: Journal of medical genetics (2020)
The imaging phenotype associated with pathogenic variants in TUBB2A is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations. For recurrent variants, no clear genotype-phenotype correlations could be established, suggesting the role of additional modifiers.