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

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

Abstract 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...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Anna Keravnou, Evy Bashiardes, Vassilis Barberis, Kyriaki Michailidou, Marinos Soteriou, George A. Tanteles, Marios A. Cariolou
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: Wiley 2020-09-01
Sraith:Molecular Genetics & Genomic Medicine
Ábhair:
Cyprus
nonsyndromic familial thoracic aortic aneurysm and dissection
SMAD3
targeted next‐generation sequencing
Rochtain ar líne:https://doi.org/10.1002/mgg3.1378

Ar líne

https://doi.org/10.1002/mgg3.1378

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