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Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome
Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused...
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| Veröffentlicht in: | Exp Ther Med |
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| Hauptverfasser: | , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
D.A. Spandidos
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6122489/ https://ncbi.nlm.nih.gov/pubmed/30186496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2018.6446 |
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