Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
Lisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, Angelica Gualtieri, Mark J Cowley, Mark James McCabe, Deepti Anand, Salil A Lachke, Luigi Scietti, Federico Forneris, Ying Zhu, Kevin Ying, Corrina Walsh, Edwin P Kirk, David Miller, Cecilia Giunta, David Sillence, Marcel Dinger, Michael Buckley, Tony Roscioli
Journal of Medical Genetics Sep 2019, 56 (9) 629-638; DOI: 10.1136/jmedgenet-2019-106019
