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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Hlavní autoři: Conte, Chiara, D'Apice, Maria Rosaria, Rinaldi, Fabrizio, Gambardella, Stefano, Sangiuolo, Federica, Novelli, Giuseppe
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Research Article
On-line přístup: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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