Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-like skin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin lev...

Descripción completa

Detalles Bibliográficos
Autores principales: Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nürnberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nürnberg, Peter, Rutsch, Frank
Formato: Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Mutation in Brief
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3049152/
https://www.ncbi.nlm.nih.gov/pubmed/20842748
http://dx.doi.org/10.1002/humu.21357

Ejemplares similares

Ejemplares similares