Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Titel:
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Auteur:
Burrage, Lindsay C. Reynolds, John J. Baratang, Nissan Vida Phillips, Jennifer B. Wegner, Jeremy McFarquhar, Ashley Higgs, Martin R. Christiansen, Audrey E. Lanza, Denise G. Seavitt, John R. Jain, Mahim Li, Xiaohui Parry, David A. Raman, Vandana Chitayat, David Chinn, Ivan K. Bertuch, Alison A. Karaviti, Lefkothea Schlesinger, Alan E. Earl, Dawn Bamshad, Michael Savarirayan, Ravi Doddapaneni, Harsha Muzny, Donna Jhangiani, Shalini N. Eng, Christine M. Gibbs, Richard A. Bi, Weimin Emrick, Lisa Rosenfeld, Jill A. Postlethwait, John Westerfield, Monte Dickinson, Mary E. Beaudet, Arthur L. Ranza, Emmanuelle Huber, Celine Cormier-Daire, Valérie Shen, Wei Mao, Rong Heaney, Jason D. Orange, Jordan S. Bertola, Débora Yamamoto, Guilherme L. Baratela, Wagner A.R. Butler, Merlin G. Ali, Asim Adeli, Mehdi Cohn, Daniel H. Krakow, Deborah Jackson, Andrew P. Lees, Melissa Offiah, Amaka C. Carlston, Colleen M. Carey, John C. Stewart, Grant S. Bacino, Carlos A. Campeau, Philippe M. Lee, Brendan