Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

OBJECTIVE: To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. METHODS: We performed whole-exome sequencing for identification of likely pathogenic mutations in a 9-year-old female patient with severe generaliz...

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Detalles Bibliográficos
Autores principales: Zanette, Vanessa, Reyes, Aurelio, Johnson, Mark, do Valle, Daniel, Robinson, Alan J., Monteiro, Vaneisse, Telles, Bruno Augusto, L.R. Souza, Ricardo, S.F. Santos, Mara L, Benincá, Cristiane, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7577545/
https://www.ncbi.nlm.nih.gov/pubmed/33134517
http://dx.doi.org/10.1212/NXG.0000000000000521

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