"The gene responsible for the branchio-oculo-facial syndrome is TFAP2A, which encodes for activating enhancer-binding protein 2 alpha (AP-2α), a transcription factor important in the development of several major craniofacial structures, with a crucial role in normal embryogenesis of the eyes. Multiple mutations of TFAP2A have now been described 1,4."
"The gene responsible for the branchio-oculo-facial syndrome is TFAP2A, which encodes for activating enhancer-binding protein 2 alpha (AP-2α), a transcription factor important in the development of several major craniofacial structures, with a crucial role in normal embryogenesis of the eyes. Multiple mutations of TFAP2A have now been described 1,4."
Expected headings
"Ocular anomalies"
"Craniofacial dysmorphism"
"Branchial sinuses"
"Renal anomalies"
"History and etymology"