Novel SMAD3 p.Arg386Thr genetic variant co‐segregating with thoracic aortic aneurysm and dissection

BACKGROUND: Pathogenic variants in the SMAD3 gene affecting the TGF‐β/SMAD3 signaling pathway with aortic vessel involvement cause Loeys‐Dietz syndrome 3, also known as aneurysms–osteoarthritis syndrome. METHODS: Description of clinical history of a family in Sweden using clinical data, DNA sequenci...

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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Engström, Karolina, Vánky, Farkas, Rehnberg, Malin, Trinks, Cecilia, Jonasson, Jon, Green, Anna, Gunnarsson, Cecilia
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
Témata:
Clinical Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7196476/
https://ncbi.nlm.nih.gov/pubmed/32022471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1089
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