| 1 | MDMHB |
| Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2. | |
| Moffatt P, Ben Amor M, Glorieux FH, Roschger P, Klaushofer K, Schwartzentruber JA, Paterson AD, Hu P, Marshall C; FORGE Canada Consortium, Fahiminiya S, Majewski J, Beaulieu CL, Boycott KM, Rauch F. | |
| Am J Hum Genet 92(2):252-8. doi: 10.1016/j.ajhg.2012.12.001. Epub 2013 Jan 3. 2013 | |