| 1 | NKX3-2, SMMD |
| Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. | |
| Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G. | |
| Am J Hum Genet 85(6):916-22.PMID: 20004766 2009 | |