TY  - JOUR
AU  - Ahmad, Hena
AU  - Requena, Teresa
AU  - Frejo, Lidia
AU  - Cobo, Marien
AU  - Gallego-Martinez, Alvaro
AU  - Martin, Francisco
AU  - Lopez-Escamez, Jose A
AU  - Bronstein, Adolfo M
PY  - 2018
DO  - 10.3389/fgene.2018.00085
SN  - 1664-8021
UR  - https://hdl.handle.net/10668/28430
T2  - Frontiers in genetics
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 variable...
LA  - en
KW  - ETS domain
KW  - cerebellar ataxia
KW  - neuropathy
KW  - vestibular hypofunction
KW  - whole-exome sequencing
TI  - Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.
TY  - research article
VL  - 9
ER  -