Biomarker development in Sturge-Weber syndrome

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 birthmark, glaucoma, seizures, hea...

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Hauptverfasser: Siddharth S. Gupta, Katharine E. Joslyn, Kieran D. McKenney, Anne M. Comi
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2025-08-01
Schriftenreihe:Journal of Neurodevelopmental Disorders
Schlagworte:
Sturge-Weber syndrome
Neurocutaneous syndrome
GNAQ
Biomarker
Urine angiogenic factor
Vascular biomarkers
Online Zugang:https://doi.org/10.1186/s11689-025-09640-6
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