Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

BACKGROUND: A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitiv...

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Опубликовано в: :BMC Neurol
Главные авторы: Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6958716/
https://ncbi.nlm.nih.gov/pubmed/31931739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-019-1586-x
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