VASCERN News
23 July 2024
Revision of Rare Vascular Tumors in the Orphanet Database
A new HTAD-WG collaborative research paper has been published by Prof Guillaume Jondeau and CRMR Marfan team members (Dr Olivier Milleron, Maud Langeois, Myrtille Spentchian, Prof Catherine Boileau) as well as HTAD-WG and HHT-WG Members (Prof Julie de Backer, Prof Yskert Von Kodolitsch, Dr Sophie Dupuis-Girod) and Centers cooperating with the network (Prof Arturo Evangelista and Dr Guisela Teixedo) in Circulation: Cardiovascular Genetics on the International Registry of Patients Carrying TGFBN1 or TGFBN2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
This paper is giving new insight in the natural history of the disease associated with TGFBR1 or TGFBR2 mutations.
Guillaume Jondeau, Jacques Ropers, Ellen Regalado, Alan Braverman, Arturo Evangelista, Guisela Teixedo, Julie De Backer, Laura Muiño-Mosquera, Sophie Naudion, Cecile Zordan, Takayuki Morisaki, Hiroto Morisaki, Yskert Von Kodolitsch, Sophie Dupuis-Girod, Shaine A. Morris, Richmond Jeremy, Sylvie Odent, Leslie C. Adès, Madhura Bakshi, Katherine Holman, Scott LeMaire, Olivier Milleron, Maud Langeois, Myrtille Spentchian, Melodie Aubart, Catherine Boileau, Reed Pyeritz and Dianna M. Milewicz for the Montalcino Aortic Consortium