High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes - Splendore, Alessandra; Silva, Elias Oliveira da; Alonso, Luís G.; Richieri-Costa, Antonio; Alonso, Nivaldo; Rosa, Alberto; Carakushansky, Gerson; Cavalcanti, Denise Pontes; Brunoni, Décio; Passos-Bueno, Maria Rita (Human Mutation, 2000)