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ENBurn-Mckeown Syndrome (BMKS)
Alias:
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome
Oculootofacial Dysplasia
Bmks
Oofd
Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance
Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome
Oculo-Oto-Facial Dysplasia
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Burn-Mckeown Syndrome, also known as choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, is related to choanal atresia, posterior and treacher collins syndrome 1. 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 and kidney, and related phenotypes are hypertelorism and short palpebral fissure
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