Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome - Suzuki, Oscar T.; Sertié, Andréa Laurato; Der Kaloustian, Vazken M.; Kok, Fernando; Carpenter, M.; Murray, J; Czeizel, A E; Kliemann, Susana E.; Rosemberg, Sérgio; Monteiro, M.; Olsen, Bjorn Reino; Passos-Bueno, Maria Rita (American Journal of Human Genetics, 2002)