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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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| 出版年: | Exp Ther Med |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
D.A. Spandidos
2018
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| 主題: | |
| オンライン･アクセス: | 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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