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Aicardi–Goutières Syndrome: Brief Case Report

The case of a term newborn diagnosed with Aicardi–Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with...

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Detalles Bibliográficos
Autores principales: Moscote-Salazar, Luis Rafael, Calderon-Miranda, Willem Guillermo, Deluquez Baute, Ray Vicente, Agrawal, Amit, Satyarthee, Guru Dutta, Maraby-Salgado, Johana, Padilla-Zambrano, Huber Said, Lopez-Cepeda, Daniela, Pacheco-Hernandez, Alfonso, Joaquim, Andrei F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982501/
https://www.ncbi.nlm.nih.gov/pubmed/29899779
http://dx.doi.org/10.4103/JPN.JPN_67_17