| 1 | AMDHG, BMPR1B |
| Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. | |
| Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. | |
| Eur J Hum Genet 22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16. 2014 | |
| 2 | AMDHG, BMPR1B |
| A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. | |
| Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K. | |
| J Med Genet 42(4):314-7. 2005 | |