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...

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Bibliographic Details

Published in:	BMC Medical Genetics
Main Authors:	Rinaldi Fabrizio, D'Apice Maria, Conte Chiara, Gambardella Stefano, Sangiuolo Federica, Novelli Giuseppe
Format:	Article
Language:	English
Published:	BMC 2011-09-01
Subjects:	Treacher Collins syndrome <it>TCOF1 </it>mutations microdeletions microinsertions
Online Access:	http://www.biomedcentral.com/1471-2350/12/125