Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.
American Journal Of Human Genetics
Moffatt, Pierre P; Ben Amor, Mouna M; Glorieux, Francis H FH; Roschger, Paul P; Klaushofer, Klaus K; Schwartzentruber, Jeremy A JA; Paterson, Andrew D AD; Hu, Pingzhao P; Marshall, Christian C; , ; Fahiminiya, Somayyeh S; Majewski, Jacek J; Beaulieu, Chandree L CL; Boycott, Kym M KM; Rauch, Frank F