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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Pediatr Neurol
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
Предметы:
Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы