Georg Haase

Jul 17, 2023 | frontiersin.org | Emily Bates |Jeffrey Moore |Antonella Sferra |Georg Haase

IntroductionHuman missense variants in TUBB3 and KIF21A cause errors in neuronal developmentIn 2010, human heterozygous TUBB3 missense variants were reported to cause isolated and syndromic congenital fibrosis of the extraocular muscles (CFEOM), a congenital paralytic eye movement disorder (Tischfield et al., 2010).