Extracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations
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 Haeberle, Julia Haehl,Alexandra Wagner, Johanna Cordes,Annegret Holm,Denny Schanze,Jens Ricke,Melanie A. Kimm,Walter A. Wohlgemuth,Martin Zenker,Moritz Wildgruber JOURNAL OF THE AMERICAN HEART ASSOCIATION（2024）
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clinical characteristics,mosaicism,pathogenic variants,RAS/MAPK pathway,vascular anomalies
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