Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TC...
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| Principais autores: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2006-01-01
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| Serier: | Journal of the Formosan Medical Association |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S0929664609601947 |
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