Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
辛辛那提型肢端面骨发育不全，是一种伴有肢体畸形的下颌面骨发育不全综合征，由POLR1A功能障碍引起。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.03.011
Weaver, K Nicole; Watt, Kristin E Noack; Hufnagel, Robert B; Navajas Acedo, Joaquin; Linscott, Luke L; Sund, Kristen L; Bender, Patricia L; König, Rainer; Lourenco, Charles M; Hehr, Ute; Hopkin, Robert J; Lohmann, Dietmar R; Trainor, Paul A; Wieczorek, Dagmar; Saal, Howard M
