Biomarker development in Sturge-Weber syndrome
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DOI: 10.1186/s11689-025-09640-6
Abstract: 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 port-wine… read more here.
Keywords: sturge weber; development sturge; weber syndrome; biomarker development ... See more keywords