Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

Ataxia demonstrates substantial phenotypic and genetic heterogeneity. We set out to determine the diagnostic yield of exome sequencing in pediatric patients with ataxia without a molecular diagnosis after standard-of-care assessment in Canada. FORGE (Finding Of Rare disease GEnes) Canada is a nation...

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Detalles Bibliográficos
Autores principales: Sawyer, Sarah L, Schwartzentruber, Jeremy, Beaulieu, Chandree L, Dyment, David, Smith, Amanda, Chardon, Jodi Warman, Yoon, Grace, Rouleau, Guy A, Suchowersky, Oksana, Siu, Victoria, Murphy, Lisa, Hegele, Robert A, Marshall, Christian R, Bulman, Dennis E, Majewski, Jacek, Tarnopolsky, Mark, Boycott, Kym M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255313/
https://www.ncbi.nlm.nih.gov/pubmed/24108619
http://dx.doi.org/10.1002/humu.22451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255313/
https://www.ncbi.nlm.nih.gov/pubmed/24108619
http://dx.doi.org/10.1002/humu.22451

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