Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome

OBJECTIVE: To identify the genetic cause of a late-onset immunodeficiency and subacute progressive neurodegenerative disease affecting cognition, motor, visual, and cerebellar systems in a patient with a family history of 2 younger siblings with an early-onset immunodeficiency disease. METHODS: Phys...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Alharby, Essa, Obaid, Mona, Elamin, Mohammed A.O., Almuntashri, Makki, Bakhsh, Ismail, Samman, Manar, Peake, Roy W.A., Alasmari, Ali, Almontashiri, Naif A.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8042776/
https://ncbi.nlm.nih.gov/pubmed/33855173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000586
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