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Treacher-Collins syndrome

MIM.154500 5q31.3-32

Saturday 22 November 2003

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