TXNL4A and choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome: Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.258-2A>G, (p.)?