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

Reference

Weaver, K. Nicole, et al. “Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome With Limb Anomalies, Is Caused by POLR1A Dysfunction”. The American Journal of Human Genetics, vol. 96, no. 5, Apr. 2015, pp. 765–774, https://doi.org/10.1016/j.ajhg.2015.03.011.

PubMed Reference Number (PMID)

25913037