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A Case of Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a hetero...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Macedonian Science of Sciences and Arts
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4001420/ https://ncbi.nlm.nih.gov/pubmed/24778568 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2013-0036 |
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