Publication
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia
Sofie Symoens, Aileen M. Barnes, Charlotte Gistelinck, Fransiska Malfait, Brecht Guillemyn, Wouter Steyaert, Delfien Syx, Sanne D’hondt, Martine Biervliet, Julie De Backer, Eckhard P. Witten, Sergey Leikin, Elena Makareeva, Gabriele Gillessen-Kaesbach, Ann Huysseune, Kris Vleminckx, Andy Willaert, Anne De Paepe, Joan C. Marini, Paul J. Coucke
The American Journal of Human Genetics, October 2015, Elsevier
DOI: 10.1016/j.ajhg.2015.08.009