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Novel mutations of TCOF1 gene in European patients with treacher Collins syndrome
BACKGROUND: Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live births. The TCS distinguishing characteristics ar...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3199234/ https://ncbi.nlm.nih.gov/pubmed/21951868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-125 |
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