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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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Detalhes bibliográficos
Main Authors: Conte, Chiara, D'Apice, Maria Rosaria, Rinaldi, Fabrizio, Gambardella, Stefano, Sangiuolo, Federica, Novelli, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
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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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