CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Abstract

Boris Keren, Oscar T. Suzuki, Marion Gérard-Blanluet, Dominique Brémond-Gignac, Monique Elmaleh, Luigi Titomanlio, Anne-Lise Delezoide, Maria Rita Passos-Bueno, and Alain Verloes* Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, France Human Genome Center, Department of Genetics and Evolution Biology… (More)

Topics

6 Figures and Tables