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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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| Gepubliceerd in: | Exp Ther Med |
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| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
D.A. Spandidos
2018
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| Onderwerpen: | |
| Online toegang: | 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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