Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family

H Ahmad, T Requena, L Frejo, M Cobo… - Frontiers in …, 2018 - frontiersin.org
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is
a rare disorder with an unknown etiology. We present a British family with presumed …