Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
Piranit Nik KantaputraKanich TripuwabhrutWorrachet IntachaiBruce M CarlsonNatalina QuartoChumpol NgamphiwSissades TongsimaNuntigar SonsuwanPublished in: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery (2020)
Treacher Collins syndrome in Sgaw Karen patients has not been previously documented. This is the first report of monopodial stapes in a TCS patient who had a TCOF1 mutation. The absence of a common facial phenotype and/or the presence of monopodial stapes may be the effects of this novel TCOF1 mutation.