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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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Detalles Bibliográficos
Autores principales:	Conte, Chiara, D'Apice, Maria Rosaria, Rinaldi, Fabrizio, Gambardella, Stefano, Sangiuolo, Federica, Novelli, Giuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199234/ https://www.ncbi.nlm.nih.gov/pubmed/21951868 http://dx.doi.org/10.1186/1471-2350-12-125

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