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

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 expressivity. Exome sequencing identified a rare missense va...

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Detalles Bibliográficos
Autores principales: Ahmad, Hena, Requena, Teresa, Frejo, Lidia, Cobo, Marien, Gallego-Martinez, Alvaro, Martin, Francisco, Lopez-Escamez, Jose A., Bronstein, Adolfo M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876245/
https://www.ncbi.nlm.nih.gov/pubmed/29628936
http://dx.doi.org/10.3389/fgene.2018.00085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876245/
https://www.ncbi.nlm.nih.gov/pubmed/29628936
http://dx.doi.org/10.3389/fgene.2018.00085

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