Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection : further delineation of the phenotype

Source
Journal of medical genetics - ISSN 0022-2593-56:4 (2019) p. 220-227
Author(s)

Severe phenotype of cutis laxa type 1B with antenatal signs due to a novel homozygous nonsense mutation in EFEMP2

Source
Molecular syndromology - ISSN 1661-8769-9:4 (2018) p. 190-196
Author(s)

Candidate gene resequencing in a large bicuspid aortic valve-associated thoracic aortic aneurysm cohort : SMAD6 as an important contributor

Source
Frontiers in physiology - ISSN 1664-042X-8 (2017) p.
Author(s)
    Elisabeth Gillis, Ajay Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Bjoern Wieschendorf, Maaike Alaerts, Nikhita Ajit Bolar, Geert Vandeweyer, Josephina Meester, Florian Wuennemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Bjoerck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart Loeys