Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis.

Autor: DeBose-Scarlett E; Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Ressler AK; Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Gallione CJ; Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA., Sapisochin Cantis G; Abdominal Transplant and HPB Surgical Oncology, Toronto General Hospital and Princess Margaret Cancer Center, University Health Network, University of Toronto, Toronto, ON PMB-11-175, Canada., Friday C; Cure HHT, Monkton, MD 21111, USA., Weinsheimer S; Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA 94110, USA., Schimmel K; Department of Medicine, Division of Pulmonary, Allergy and Critical Care, Stanford University, Stanford, CA 94305, USA., Spiekerkoetter E; Department of Medicine, Division of Pulmonary, Allergy and Critical Care, Stanford University, Stanford, CA 94305, USA., Kim H; Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA 94110, USA., Gossage JR; Department of Medicine, Medical College of Georgia at Augusta University, Augusta, GA 30912, USA., Faughnan ME; Division of Respirology, Department of Medicine, University of Toronto, Toronto, ON M5S 3H2, Canada; Toronto HHT Centre, St. Michael's Hospital and Li Ka Shing Knowledge Institute, Toronto, ON M5B 1W8, Canada., Marchuk DA; Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA. Electronic address: douglas.marchuk@duke.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2283-2298. Date of Electronic Publication: 2024 Sep 18.