Robuta

https://prism.northwestern.edu/records/5ewpq-x1b11 Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation early onset west syndrome coloboma mutation https://research.vu.nl/en/publications/mutations-in-rars-cause-hypomyelination/ Mutations in RARS Cause Hypomyelination - Vrije Universiteit Amsterdam vrije universiteit mutations rars cause amsterdam https://prism.northwestern.edu/records/qrc0w-f9s91 Ataxia with Idiopathic Hypomyelination ataxia idiopathic