Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome

BACKGROUND: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypot...

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Publicado no:Pediatr Neurol
Main Authors: Day, Alyssa M., McCulloch, Charles E., Hammill, Adrienne M., Juhász, Csaba, Lo, Warren D., Pinto, Anna L., Miles, Daniel K., Fisher, Brian J., Ball, Karen L., Wilfong, Angus A., Levin, Alex V., Thau, Avrey J., Comi, Anne M., Koenig, Jim I., Lawton, Michael T., Marchuk, Douglas A., Moses, Marsha A., Freedman, Sharon F., Pevsner, Jonathan
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7288445/
https://ncbi.nlm.nih.gov/pubmed/30853154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2018.12.002
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