Weaver et al., 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 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (1 Record)
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acrofacial dysostosis Cincinnati type