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Weaver K , Watt K , Hufnagel R, Navajas Acedo J, Linscott L, Sund K, Bender P, König R, Lourenco C, Hehr U, Hopkin R, Lohmann D, Trainor P, Wieczorek D, Saal H. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics. 2015 May;96(5):765–74. doi: 10.1016/j.ajhg.2015.03.011. |