Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in LOX, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we ide...

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Detalles Bibliográficos
Autores principales: Van Gucht, Ilse, Krebsova, Alice, Diness, Birgitte Rode, Laga, Steven, Adlam, Dave, Kempers, Marlies, Samani, Nilesh J., Webb, Tom R., Baranowska, Ania A., Van Den Heuvel, Lotte, Perik, Melanie, Luyckx, Ilse, Peeters, Nils, Votypka, Pavel, Macek, Milan, Meester, Josephina, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8269155/
https://www.ncbi.nlm.nih.gov/pubmed/34281165
http://dx.doi.org/10.3390/ijms22137111

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