B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.
Al Dhaibani MA, El-Hattab AW, Ismayl O, Suleiman J.
Neuropediatrics. 2018 Aug;49(4):289-295. doi: 10.1055/s-0038-1651519. Epub 2018 May 23.
PMID:29791932
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.