학술논문
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Document Type
Article
Author
Van Gucht, I.; Meester, J.A.N.; Bento, J.R.; Bastiaansen, M.; Bastianen, J.; Luyckx, I.; Van Den Heuvel, L.; Fransen, E.; Perik, M.H.A.M.; Velchev, J.D.; Alaerts, M.; Schepers, D.; Peeters, S.; Van Laer, L.; Loeys, B.L.; Verstraeten, A.; Neutel, C.H.G.; Guns, P.-J.; Vermont, M.; Pintelon, I.; Almesned, A.; Ferla, M.P.; Taylor, J.C.; Pagnamenta, A.T.; Dallosso, A.R.; Williams, M.; Evans, J.; Rosenfeld, J.A.; Sluysmans, T.; Rodrigues, D.; Chikermane, A.; Bharmappanavara, G.; Vijayakumar, K.; Mottaghi Moghaddam Shahri, H.; Hashemi, N.; Torbati, P.N.; Toosi, M.B.; Al-Hassnan, Z.N.; Vogt, J.; Revencu, N.; Maystadt, I.; Miller, E.M.; Weaver, K.N.; Begtrup, A.; Houlden, H.; Murphy, D.; Maroofian, R.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 June 2021, 108(6):1115-1125)
Subject
Language
English
ISSN
15376605
00029297
00029297