Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

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第一作者： K Nicole,Weaver

第一单位： Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address: kathryn.weaver@cchmc.org.

作者： K Nicole,Weaver ^[1] ; Kristin E Noack,Watt ^[2] ; Robert B,Hufnagel ^[3] ; Joaquin,Navajas Acedo ^[4] ; Luke L,Linscott ^[5] ; Kristen L,Sund ^[3] ; Patricia L,Bender ^[3] ; Rainer,König ^[6] ; Charles M,Lourenco ^[7] ; Ute,Hehr ^[8] ; Robert J,Hopkin ^[3] ; Dietmar R,Lohmann ^[9] ; Paul A,Trainor ^[2] ; Dagmar,Wieczorek ^[9] ; Howard M,Saal ^[3]

作者单位： Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Electronic address: kathryn.weaver@cchmc.org. ^[1] Stowers Institute for Medical Research, 1000 East 50(th) Street, Kansas City, MI 64110, USA; University of Kansas Medical Center, Kansas City, MI 66160, USA. ^[2] Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. ^[3] Stowers Institute for Medical Research, 1000 East 50(th) Street, Kansas City, MI 64110, USA. ^[4] Department of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. ^[5] Institut für Humangenetik, Universitätsklinikum Frankfurt, Theodor-Stern-Kai 7, 60596 Frankfurt, Germany. ^[6] Neurogenetics Unit, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Avenue Bandeirantes 3900, Sao Paulo 14049-900, Brazil. ^[7] Zentrum für Humangenetik, Universitätsklinikum Regensburg, Franz-Josef-StrauB-Allee 11, 93053 Regensburg, Germany. ^[8] Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr 55, 45122 Essen, Germany. ^[9]