Publication
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Chae Syng Lee, He Fu, Nissan Baratang, Justine Rousseau, Heena Kumra, V. Reid Sutton, Marcello Niceta, Andrea Ciolfi, Guilherme Yamamoto, Débora Bertola, Carlo L. Marcelis, Dorien Lugtenberg, Andrea Bartuli, Choel Kim, Julie Hoover-Fong, Nara Sobreira, Richard Pauli, Carlos Bacino, Deborah Krakow, Jillian Parboosingh, Patrick Yap, Ariana Kariminejad, Marie T. McDonald, Mariana I. Aracena, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, James T. Lu, Dan H. Cohn, Marco Tartaglia, Brendan H. Lee, Dieter P. Reinhardt, Philippe M. Campeau
The American Journal of Human Genetics, November 2017, Elsevier
DOI: 10.1016/j.ajhg.2017.09.019