TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Whitman, Mary, Brenda Barry, Caroline Robson, Flavia Facio, Carol Van Ryzin, Wai-Man Chan, Tanya Lehky, et al. 2021. “TUBB3 Arg262His Causes a Recognizable Syndrome Including CFEOM3, Facial Palsy, Joint Contractures, and Early-Onset Peripheral Neuropathy”. Hum Genet 140 (12): 1709-31.