TXNL4A and choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome: Given the high homology between DIB1 and TXNL4A, it is likely that reduced TXNL4A expression resulting from the TXNL4A mutations observed in BMKS patients leads to reduced assembly of the human tri-snRNP, which in turn may affect the splicing of a specific subset of pre-mRNAs important in craniofacial development.