@article{article6217aea3,
title   = {High mutation detection rate in TCOF1 among treacher Collins Syndrome patients reveals clustering of mutation and 16 novel pathogenic changes},
author = {Splendore, Alessandra and Silva, Elias Oliveira da and Alonso, Luís G. and Richieri-Costa, Antonio and Alonso, Nivaldo and Rosa, Alberto and Carakushansky, Gerson and Cavalcanti, Denise Pontes and Brunoni, Décio and Passos-Bueno, Maria Rita},
year = {2000},
doi = {10.1002/1098-1004(200010)16:4%3C315::aid-humu4%3E3.0.co;2-h},
journal   = {Human Mutation}
}