Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
发育不良
医学
解剖
外科
先天性疾病
作者
K. Nicole Weaver,Kristin E. Noack Watt,Robert B. Hufnagel,Joaquín Navajas Acedo,Luke L. Linscott,Kristen L. Sund,Patricia L. Bender,Rainer König,Charles Marques Lourenço,Ute Hehr,Robert J. Hopkin,Dietmar Lohmann,Paul A. Trainor,Dagmar Wieczorek,Howard M. Saal