Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports

BACKGROUND: Thoracic aortic aneurysm and dissection (TAA/D) represents a potentially lethal disease group characterized by an increased risk of dissection or rupture. Only a small percentage (approximately 30%) of individuals with nonsyndromic familial TAA/D have a pathogenic variant in one of the g...

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Detalles Bibliográficos
Autores principales: Keravnou, Anna, Bashiardes, Evy, Barberis, Vassilis, Michailidou, Kyriaki, Soteriou, Marinos, Tanteles, George A., Cariolou, Marios A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507478/
https://www.ncbi.nlm.nih.gov/pubmed/32597575
http://dx.doi.org/10.1002/mgg3.1378

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