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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8042776/ https://www.ncbi.nlm.nih.gov/pubmed/33855173 http://dx.doi.org/10.1212/NXG.0000000000000586 |