Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Jurgens, Julie, Brenda Barry, Gabrielle Lemire, Wai-Man Chan, Mary Whitman, Sherin Shaaban, Caroline Robson, et al. 2021. “Novel Variants in TUBA1A Cause Congenital Fibrosis of the Extraocular Muscles With or Without Malformations of Cortical Brain Development”. Eur J Hum Genet 29 (5): 816-26.