Pathogenic Variants in THSD4, Encoding the ADAMTS-like 6 Protein, Predispose to Inherited Thoracic Aortic Aneurysm
Sandy Elbitar,Marjolijn Renard,Pauline Arnaud,Nadine Hanna,Marie-Paule Jacob,Dong-Chuan Guo,Ko Tsutsui,Marie-Sylvie Gross,Ketty Kessler,Laurent Tosolini,Vincenzo Dattilo,Sebastien Dupont,Jeremie Jonquet,Maud Langeois,Louise Benarroch,Melodie Aubart,Youmna Ghaleb,Yara Abou Khalil,Mathilde Varret,Petra El Khoury,Benoit Ho-Tin-Noé,Yves Alembik,Sébastien Gaertner,Bertrand Isidor,Laurent Gouya,Olivier Milleron,Kiyotoshi Sekiguchi,Dianna Milewicz,Julie De Backer,Carine Le Goff,Jean-Baptiste Michel,Guillaume Jondeau,Lynn Y. Sakai,Catherine Boileau,Marianne Abifadel Genetics in Medicine(2021)
Key words
thoracic aortic aneurysm,THSD4,ADAMTSL6,diagnosis
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