craniofacial anomalies
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.
We have provided a 20-year follow-up of a syndrome characterized by <span class="disease" id="14556253-7-68-90">craniofacial anomalies</span>, hearing loss and hand deformities and which is caused by a <span class="gene" id="14556253-7-151-155">PAX3</span> missense mutation.