Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
- Creator: Meester, Josephina A. N. , Hebert, Anne , Blankensteijn, Jan D. , Brennan, Paul , Bucks, Stephanie A. , Campbell, Ian M. , Conrad, Solène , Curtis, Stephanie L. , Dasouki, Majed , Dent, Carolyn L. , Eden, James , Goel, Himanshu , Bastiaansen, Maaike , Oakley, Stephen P. , Houweling, AC , Isidor, B , Jackson, N , Koopman, P , Korpioja, A , Kraatari-Tiri, M , Kuulavainen, L , Lee, K , Low, KJ , Rabaut, Laura , Lu, AC , McManus, ML , Oakley, SP , Oliver, J , Organ, NM , Overwater, E , Revencu, N , Trainer, AH , Trivedi, B , Turner, CLS , Bastianen, Jarl , Whittington, R , Zankl, A , Zentner, D , Van Laer, L , Verstraeten, A , Loeys, BL , Boeckx, Nele , Ashcroft, Kathryn , Atwal, Paldeep S. , Benichou, Antoine , Billon, Clarisse
- Resource Type: journal article
- Date: 2024
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
- Creator: Zhao, Yingjie , Wang, Yujue , Johnston, H. Richard , Chow, Eva W. C. , Vorstman, Jacob A. S. , Vingerhoets, Claudia , van Amelsvoort, Therese , Gothelf, Doron , Swillen, Ann , Breckpot, Jeroen , Vermeesch, Joris R. , Eliez, Stephan , Shi, Lijie , Schneider, Maude , van den Bree, MBM , Owen, MJ , Kates, WR , Repetto, GM , Shashi, V , Schoch, K , Bearden, CE , Digilio, MC , Unolt, M , McDonald-McGinn, Donna M. , Putotto, C , Marino, B , Pontillo, M , Armando, M , Vicari, S , Angkustsiri, K , Campbell, Linda , Busa, T , Heine-Suñer, D , Murphy, KC , Crowley, T. Blaine , Murphy, D , García-Miñaúr, S , Fernández, L , International 22q11.2 Brain and Behavior Consortium (IBBC), , Zhang, ZD , Goldmuntz, E , Gur, RE , Emanuel, BS , Zheng, D , Marshall, CR , McGinn, Daniel E. , Bassett, AS , Wang, T , Morrow, BE , Tran, Oanh T. , Miller, Daniella , Lin, Jhih-Rong , Zackai, Elaine
- Resource Type: journal article
- Date: 2023