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 investigate the...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Carolina A. Parada, Fatima M. El‐Ghazali, Daphne Toglia, Jacob Ruzevick, Malia McAvoy, Samuel Emerson, Yigit Karasozen, Tina Busald, Ahmad A. Nazem, Shaun M. Suranowitz, Sherene Shalhub, Desiree A. Marshall, Luis F. Gonzalez‐Cuyar, Michael O. Dorschner, Manuel Ferreira
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2022-02-01
Colecção:	Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Assuntos:	cerebral aneurysm fusiform mosaic PDGFRB
Acesso em linha:	https://www.ahajournals.org/doi/10.1161/JAHA.121.024289
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!