| 1 | FN1, SMDCF1 |
| Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". | |
| Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. | |
| Am J Hum Genet 101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019. 2017 | |
| 2 | SMDCF1 |
| Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases. | |
| Currarino G, Birch JG, Herring JA. | |
| Pediatr Radiol 30(1):14-24. Review. 2000 | |
| 3 | SMDCF1 |
| Spondylometaphyseal dysplasia, corner fracture type: a heritable condition associated with coxa vara. | |
| Langer LO Jr, Brill PW, Ozonoff MB, Pauli RM, Wilson WG, Alford BA, Pavlov H, Drake DG. | |
| Radiology 175(3):761-6. 1990 | |