Treacher Collins syndrome
MIM.154500 5q31.3-32
Treacher-Collins syndrome
Treacher-Collins syndrome is an autosomal dominant disorder of craniofacial development with conductive hearing loss and cleft palate.
Etiology
Treacher Collins syndrome is caused by mutation in the 'treacle' gene TCOF1 (MIM.606847).
References
Dixon MJ. Treacher-Collins syndrome. Hum Mol Genet. 1996;5 Spec No:1391-6. PMID: #8875242#
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