. . . . . . . . . . . . "[We have provided a 20-year follow-up of a syndrome characterized by craniofacial anomalies, hearing loss and hand deformities and which is caused by a PAX3 missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:54+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .