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

• Main Authors: Rinaldi Fabrizio (Author), D'Apice Maria (Author), Conte Chiara (Author), Gambardella Stefano (Author), Sangiuolo Federica (Author), Novelli Giuseppe (Author)
• Format: Book
• Published: BMC, 2011-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...