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.
6 Genes / Markers
Marker Type Symbol Name
Gene dlx2a distal-less homeobox 2a
Gene polr1a RNA polymerase I subunit A
Gene sox10 SRY-box transcription factor 10
Gene sox2 SRY-box transcription factor 2
Gene sox9a SRY-box transcription factor 9a
Gene tp53 tumor protein p53
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