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

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 mandibulofacia...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4570288/
https://ncbi.nlm.nih.gov/pubmed/25913037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.03.011
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