AIMC Topic: Sturge-Weber Syndrome

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Biomarker development in Sturge-Weber syndrome.

Journal of neurodevelopmental disorders
Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial por...