Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds

BACKGROUND: Activating variants in platelet‐derived growth factor receptor beta (PDGFRB), including a variant we have previously described (p.Tyr562Cys [g.149505130T>C [GRCh37/hg19]; c.1685A>G]), are associated with development of multiorgan pathology, including aneurysm formation. To investig...

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Detalles Bibliográficos
Autores principales: Parada, Carolina A., El‐Ghazali, Fatima M., Toglia, Daphne, Ruzevick, Jacob, McAvoy, Malia, Emerson, Samuel, Karasozen, Yigit, Busald, Tina, Nazem, Ahmad A., Suranowitz, Shaun M., Shalhub, Sherene, Marshall, Desiree A., Gonzalez‐Cuyar, Luis F., Dorschner, Michael O., Ferreira, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245804/
https://www.ncbi.nlm.nih.gov/pubmed/35156398
http://dx.doi.org/10.1161/JAHA.121.024289

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