@article{article2ce2da87,
title   = {CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene},
author = {Keren, Boris and Suzuki, Oscar Takeo and Gérard-Blanluet, Marion and Brémond-Gignac, Dominique and Elmaleh, Monique and Titomanlio, Luigi and Delezoide, Anne-Lise and Passos-Bueno, Maria Rita and Verloes, Alain},
year = {2007},
doi = {10.1002/ajmg.a.31784},
journal   = {American Journal of Medical Genetics. Part A}
}