Article
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.
Polskie Archiwum Medycyny Wewnetrznej - 1 Jan 2013
Campens Laurence, Renard Marjolijn, Callewaert Bert, Coucke Paul, De Backer Julie, De Paepe Anne
Abstract excerpt
Since the identification of the fibrillin‑1 gene as the causal gene for Marfan syndrome, our knowledge of molecular genetics and the applicability of genetic testing for heritable thoracic aneurysms and dissections (H-TAD) in clinical practice have increased substantially. Several new syndromes related to H-TAD have been described and the list of mutated genes in syndromal and nonsyndromal H-TAD is rapidly...
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