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Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome
Treacher–Collins–Franceschetti syndrome (TCS) is an autosomal dominant craniofacial disorder characterised by midface hypoplasia, micrognathia, downslanting palpebral fissures, eyelid colobomata, and ear deformities that often lead to conductive deafness. A total of 182 patients with signs consisten...
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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3376267/ https://ncbi.nlm.nih.gov/pubmed/22317976 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.2 |
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