Accepted Article Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4 Authors' names and institutions : Jean-Michaël Mazzella 1 , Michael Frank 1 , Patrick Collignon 2 , Maud Langeois 3 , Anne Legrand 1,4,5 , Xavier Jeunemaitre 1,4,5 , Juliette Albuisson 1,4,5 1 . Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France (www.maladiesvasculairesrares.com) 2 . Centre Hospitalier Intercommunal Toulon-La Seyne-sur-Mer, Service de Génétique Médicale, Toulon, France. 3 . Assistance Publique-Hôpitaux de Paris, Hôpital Bichat-Claude-Bernard, Centre de Référence National Syndromes de Marfan et apparentés, Paris, France (www.marfan.fr) 4 . Université Paris Descartes, Sorbonne Paris Cité, Paris, France. 5 . INSERM, U970, Paris Cardiovascular Research Centre, Paris, France. Keywords : Loeys-Dietz Syndrome type 4 – Transforming-Growth-factorβ (TGFβ) signaling pathway – – Phenotypic variability – Diffuse vascular lesions Corresponding author’s contact information: Juliette Albuisson Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Assistance Publique-Hôpitaux de Paris F-75015, Paris, France Tel: +33.1.56.09.54.87 Fax: +33.1.56.09.38.84 email: Juliette.albuisson@aphp.fr Ethical statement : CE-HUPO (Ethics Committee of University Hospital West-Paris) approved this study. Conflict of interest statement : The authors declare no conflict of interest. Acknowledgements : We acknowledge the patients and their family, for their kind participation to this work. This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/cge.12838 This article is protected by copyright. All rights reserved.