Authors: Splendore, A Silva, EO Alonso, LG Richieri-Costa, A Alonso, N Rosa, A Carakushanky, G Cavalcanti, DP Brunoni, D Passos-Bueno, MR

Citation: A. Splendore et al., High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes, HUM MUTAT, 16(4), 2000, pp. 315-322