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Novel mutations of <it>TCOF1 </it>gene in European patients with treacher Collins syndrome

<p>Abstract</p> <p>Background</p> <p>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 distingu...

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Principais autores: Rinaldi Fabrizio, D'Apice Maria, Conte Chiara, Gambardella Stefano, Sangiuolo Federica, Novelli Giuseppe
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2011-09-01
Serier:BMC Medical Genetics
Fag:
Treacher Collins syndrome
<it>TCOF1 </it>mutations
microdeletions
microinsertions
Online adgang:http://www.biomedcentral.com/1471-2350/12/125
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