A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

Schepers, D.; Tortora, G.; Morisaki, H.; MacCarrick, G.; Lindsay, M.; Liang, D.; ... ; Loeys, B. (2018)

Article / Letter to editor

• aneurysm
• Loeys-Dietz syndrome
• SMAD2
• SMAD3
• TGFB2
• TGFB3

• All authors: Schepers, D.; Tortora, G.; Morisaki, H.; MacCarrick, G.; Lindsay, M.; Liang, D.; Mehta, S.G.; Hague, J.; Verhagen, J.; Laar, I. van de; Wessels, M.; Detisch, Y.; Haelst, M. van; Baas, A.; Lichtenbelt, K.; Braun, K.; Linde, D. van der; Roos-Hesselink, J.; McGillivray, G.; Meester, J.; Maystadt, I.; Coucke, P.; El-Khoury, E.; Parkash, S.; Diness, B.; Risom, L.; Scurr, I.; Hilhorst-Hofstee, Y.; Morisaki, T.; Richer, J.; Desir, J.; Kempers, M.; Rideout, A.L.; Horne, G.; Bennett, C.; Rahikkala, E.; Vandeweyer, G.; Alaerts, M.; Verstraeten, A.; Dietz, H.; Laer, L. van; Loeys, B.
• Date: 2018-05-31
• Journal: Human Mutation
• Volume: 39
• Issue: 5
• Pages: 621 - 634
• DOI: doi:10.1002/humu.23407
• Link: https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23407