Stefano Gambardella

Summary

Publications

  1. pmc Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome
    Chiara Conte
    Fondazione Policlinico di Tor Vergata, Rome, Italy
    BMC Med Genet 12:125. 2011

Detail Information

Publications1

  1. pmc Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome
    Chiara 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...