Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases

OBJECTIVE: The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient. METHODS: Here, we describe the phenotype of a patient with cerebral autosomal dominant arteriopa...

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Detalles Bibliográficos
Autores principales: Xiromerisiou, Georgia, Marogianni, Chrysoula, Dadouli, Katerina, Zompola, Christina, Georgouli, Despoina, Provatas, Antonios, Theodorou, Aikaterini, Zervas, Paschalis, Nikolaidou, Christina, Stergiou, Stergios, Ntellas, Panagiotis, Sokratous, Maria, Stathis, Pantelis, Paraskevas, Georgios P., Bonakis, Anastasios, Voumvourakis, Konstantinos, Hadjichristodoulou, Christos, Hadjigeorgiou, Georgios M., Tsivgoulis, Georgios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238894/
https://www.ncbi.nlm.nih.gov/pubmed/32582863
http://dx.doi.org/10.1212/NXG.0000000000000434

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