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

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

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...

Full description

Bibliographic Details
Main Authors: Vanessa F. Schmidt, Friedrich G. Kapp, Constantin Goldann, Linda Huthmann, Beatrix Cucuruz, Richard Brill, Veronika Vielsmeier, Caroline T. Seebauer, Armin‐Johannes Michel, Max Seidensticker, Wibke Uller, Jakob B. W. Weiß, Alena Sint, Beate Häberle, Julia Haehl, Alexandra Wagner, Johanna Cordes, Annegret Holm, Denny Schanze, Jens Ricke, Melanie A. Kimm, Walter A. Wohlgemuth, Martin Zenker, Moritz Wildgruber
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Subjects:
clinical characteristics
mosaicism
pathogenic variants
RAS/MAPK pathway
vascular anomalies
Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.123.033287

Internet

https://www.ahajournals.org/doi/10.1161/JAHA.123.033287

Similar Items