TY  - GEN 
AU  - Ahmad, Hena
AU  - Requena, Teresa
AU  - Frejo, Lidia
AU  - Cobo, Marien
AU  - Gallego Martínez, Álvaro
AU  - Martin, Francisco
AU  - López Escámez, José Antonio
AU  - Bronstein, Adolfo M.
PY  - 2018
UR  - https://hdl.handle.net/10481/97168
AB  - 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 autosomal dominant CANVAS with incomplete penetrance and...
LA  - eng
PB  - Frontiers Media
KW  - cerebellar ataxia
KW  - vestibular hypofunction
KW  - neuropathy
TI  - Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family
DO  - 10.3389/fgene.2018.00085
ER  -