Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia

OBJECTIVE: Variant ataxia‐telangiectasia is caused by mutations that allow some retained ataxia telangiectasia‐mutated (ATM) kinase activity. Here, we describe the clinical features of the largest established cohort of individuals with variant ataxia‐telangiectasia and explore genotype‐phenotype cor...

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Detalles Bibliográficos
Autores principales: Schon, Katherine, van Os, Nienke J.H., Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P., Mehta, Puja R., Everett, Natasha, Bottolo, Leonardo, van de Warrenburg, Bart P., Byrd, Philip J., Weemaes, Corry, Willemsen, Michel A., Tischkowitz, Marc, Taylor, A. Malcolm, Hensiek, Anke E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590299/
https://www.ncbi.nlm.nih.gov/pubmed/30549301
http://dx.doi.org/10.1002/ana.25394

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