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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Keravnou, Anna, Bashiardes, Evy, Barberis, Vassilis, Michailidou, Kyriaki, Soteriou, Marinos, Tanteles, George A., Cariolou, Marios A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507478/
https://ncbi.nlm.nih.gov/pubmed/32597575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1378
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