Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"
纤连蛋白基因突变导致一种伴有“角状骨折”的脊椎干骺端发育不良亚型
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.09.019
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 ,Marco Tartaglia ,Brendan H Lee ,Dieter P Reinhardt ,Philippe M Campeau
