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Two neurologic facets of CTLA4-related haploinsufficiency

OBJECTIVE: To describe the clinical and radiologic neurologic characteristics of patients with cytotoxic T-lymphocyte antigen-4 (CTLA4) haploinsufficiency. METHODS: Three patients from 2 families had neurologic manifestations in the context of CTLA4 haploinsufficiency. Their clinical and MRI finding...

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Detalles Bibliográficos
Autores principales: Ayrignac, Xavier, Goulabchand, Radjiv, Jeziorski, Eric, Rullier, Patricia, Carra-Dallière, Clarissa, Lozano, Claire, Portales, Pierre, Vincent, Thierry, Viallard, Jean François, Menjot de Champfleur, Nicolas, Rieux-Laucat, Frédéric, Besnard, Caroline, Koenig, Michel, Guissart, Claire, Labauge, Pierre, Guilpain, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286662/
https://www.ncbi.nlm.nih.gov/pubmed/32499327
http://dx.doi.org/10.1212/NXI.0000000000000751