| 1 | BMPER, DIASD |
| A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). | |
| Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. | |
| Am J Med Genet A 155A(11):2801-6. doi: 10.1002/ajmg.a.34240. Epub 2011 Oct 11. 2011 | |
| 2 | BMPER, DIASD |
| BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. | |
| Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH. | |
| Am J Hum Genet 87(4):532-7.PMID: 20869035 2010 | |