Duplication in splicing site of intron 2 of gene PTCH1 in seven patients with holoprosencephaly - Bertolacini, Claudia Danielli Pereira; Ribeiro-Bicudo, Lucilene Arilho; Petrin, A; Legnaro, Chiara de Campos; Goes, L. D; Ramalho, R; Richieri-Costa, Antonio; Murray, Jeffrey C (International Meeting on Craniofacial Anomalies: Clinical Phenotype, Genes Related and New Perspectives, 2011)