Al-Yassin A, Calder AD, Harrison M, Lester T, Lord H, Oldridge M, Watkins S, Keen R, Wakeling EL. A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication. European Journal of Human Genetics. 2018 Jun 11;26(9):1288–93. doi: 10.1038/s41431-018-0166-7.