Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.

doi:10.1161/JAHA.123.033287

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Article

Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.

Journal of the American Heart Association - 16 Apr 2024

Schmidt Vanessa F, Kapp Friedrich G, Goldann Constantin, Huthmann Linda, Cucuruz Beatrix, Brill Richard, Vielsmeier Veronika, Seebauer Caroline T, Michel Armin-Johannes, Seidensticker Max, Uller Wibke, Weiß Jakob B W, Sint Alena, Häberle Beate, Haehl Julia, Wagner Alexandra, Cordes Johanna, Holm Annegret, Schanze Denny, Ricke Jens, Kimm Melanie A, Wohlgemuth Walter A, Zenker Martin, Wildgruber Moritz

Abstract excerpt

BACKGROUND: We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen-activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification. METHODS AND RESULTS: This retrospective multicenter cohort study included 29 patients with extracranial vascular anomalies containing mosaic pathogenic variants (PVs) in genes of the...

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PMID: 38563363
DOI: 10.1161/JAHA.123.033287
PMCID: PMC11262533

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