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.
; 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. 
Abstract
We report three individuals with a cranioskeletal malformation syndrome that we define as acrofacial dysostosis, Cincinnati type. Each individual has a heterozygous mutation in POLR1A, which encodes a core component of RNA polymerase 1. All three individuals exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies. Consistent with this observation, we ...
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