Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

OBJECTIVE: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. METHODS: We performed an international cross-sectional study on patients with genetically proven POLR3-rel...

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Detalles Bibliográficos
Autores principales: Perrier, Stefanie, Gauquelin, Laurence, Fallet-Bianco, Catherine, Dishop, Megan K., Michell-Robinson, Mackenzie A., Tran, Luan T., Guerrero, Kether, Darbelli, Lama, Srour, Myriam, Petrecca, Kevin, Renaud, Deborah L., Saito, Michael, Cohen, Seth, Leiz, Steffen, Alhaddad, Bader, Haack, Tobias B., Tejera-Martin, Ingrid, Monton, Fernando I., Rodriguez-Espinosa, Norberto, Pohl, Daniela, Nageswaran, Savithri, Grefe, Annette, Glamuzina, Emma, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238899/
https://www.ncbi.nlm.nih.gov/pubmed/32582862
http://dx.doi.org/10.1212/NXG.0000000000000425

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