Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening disease with often unrecognized inherited forms. We sought to identify novel pathogenic variants associated with autosomal dominant inheritance of TAAD. METHODS: We analyzed exome sequencing data from 35 French TAAD famili...

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Detalles Bibliográficos
Autores principales: Elbitar, Sandy, Renard, Marjolijn, Arnaud, Pauline, Hanna, Nadine, Jacob, Marie-Paule, Guo, Dong-Chuan, Tsutsui, Ko, Gross, Marie-Sylvie, Kessler, Ketty, Tosolini, Laurent, Dattilo, Vincenzo, Dupont, Sebastien, Jonquet, Jeremie, Langeois, Maud, Benarroch, Louise, Aubart, Melodie, Ghaleb, Youmna, Khalil, Yara Abou, Varret, Mathilde, Khoury, Petra El, Ho-Tin-Noé, Benoit, Alembik, Yves, Gaertner, Sébastien, Isidor, Bertrand, Gouya, Laurent, Milleron, Olivier, Sekiguchi, Kiyotoshi, Milewicz, Dianna, Backer, Julie De, Le Goff, Carine, Michel, Jean-Baptiste, Jondeau, Guillaume, Sakai, Lynn Y., Boileau, Catherine, Abifadel, Marianne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559271/
https://www.ncbi.nlm.nih.gov/pubmed/32855533
http://dx.doi.org/10.1038/s41436-020-00947-4

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