HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN

Author:

Caruana MaryanneORCID,Baars Marieke J.ORCID,Bashiardes EvyORCID,Benke Kalman,Björck ErikORCID,Codreanu Andrei,de Moya Rubio Elena,Dumfarth Julia,Evangelista Arturo,Groenink Maarten,Kallenbach Klaus,Kempers Marlies,Keravnou AnnaORCID,Loeys BartORCID,Muiño-Mosquera LauraORCID,Nagy Edit,Milleron Olivier,Nistri Stefano,Pepe GuglielminaORCID,Roos-Hesselink Jolien,Szabolcs Zoltan,Teixidó-Tura GiselaORCID,Timmermans Janneke,Van de Laar Ingrid,van Kimmenade Roland,Verstraeten Aline,Von Kodolitsch Yskert,De Backer JulieORCID,Jondeau GuillaumeORCID

Funder

DG SANTE

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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4. Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants;Arnaud;Genet. Med.,2021

5. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders;Attias;Circulation,2009

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