Burn-McKeown Syndrome

About the Disease
Burn-Mckeown Syndrome, also known as choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, is related to choanal atresia, posterior and postaxial acrofacial dysostosis. An important gene associated with Burn-Mckeown Syndrome is TXNL4A (Thioredoxin Like 4A), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and mRNA Splicing - Minor Pathway. Affiliated tissues include heart, kidney and eye, and related phenotypes are hypertelorism and short palpebral fissure

Common Targets
PLCB4 | TXNL4A

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