- Novel mutations of TCOF1 gene in European patients with Treacher Collins syndromeChiara Conte
Fondazione Policlinico di Tor Vergata, Rome, Italy
BMC Med Genet 12:125. 2011..TCS results from mutations in the TCOF1 gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the TCOF1 gene have been implicated in only 81-93% of TCS cases...