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- W2046975967 abstract "Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C → T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation. © 2004 Wiley-Liss, Inc." @default.
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- W2046975967 date "2004-01-01" @default.
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- W2046975967 title "Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation inTCOF1" @default.
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- W2046975967 doi "https://doi.org/10.1002/ajmg.a.30038" @default.
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