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

Article

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 and Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics 96 (5), pp. 765-774.

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Details

Item type	Article
Journal or Publication Title	The American Journal of Human Genetics
Publisher	CELL PRESS
Place of Publication	CAMBRIDGE
Volume	96
Number of Issue or Book Chapter	5
Page Range	pp. 765-774
Date	2015
Date of publication	19 Dec 2024 07:34
Institutions	Medicine > Lehrstuhl für Humangenetik
Identification Number	Value Type 10.1016/j.ajhg.2015.03.011 DOI
Keywords	RNA-POLYMERASE I; RIBOSOMAL-RNA; GENE-TRANSCRIPTION; P53; COLLINSSYNDROME,TREACHER; PATHOGENESIS; INHIBITION; BIOGENESIS; GENERATION; MUTATIONS;
Dewey Decimal Classification	600 Technology > 610 Medical sciences Medicine
Status	Published
Refereed	Yes, this version has been refereed
Created at the University of Regensburg	Yes
Item ID	60433

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