OBO ID: DOID:0060353

Citations

(2 total)

Term: acrofacial dysostosis Cincinnati type

Watt, K.E.N., Neben, C.L., Hall, S., Merrill, A.E., Trainor, P.A. (2018) tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. Human molecular genetics. 27(15):2628-2643

Weaver, K.N., Watt, K.E., Hufnagel, R.B., Navajas Acedo, J., Linscott, L.L., Sund, K.L., Bender, P.L., König, R., Lourenco, C.M., Hehr, U., Hopkin, R.J., Lohmann, D.R., Trainor, P.A., Wieczorek, D., Saal, H.M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. American journal of human genetics. 96(5):765-74