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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Macedonian Science of Sciences and Arts
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001420/ https://www.ncbi.nlm.nih.gov/pubmed/24778568 http://dx.doi.org/10.2478/bjmg-2013-0036 |