Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Hum Mutat. 2010 Aug;31(8):E1587-93