Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling - Martin, Regina M.; Oliveira, Paulo S.; Costa, Elaine M. F.; Arnhold, Ivo J. P.; Mendonça, Berenice Bilharinho de (Arquivos brasileiros de endocrinologia e metabologia, 2008)