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Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Two male sibs with severe micrognathia and a missense variant in MED12. European Journal of Medical Genetics. 2016 Aug;59(8):367–72. doi: 10.1016/j.ejmg.2016.06.001. |