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CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
Author(s) -
Keren Boris,
Suzuki Oscar T.,
GérardBlanluet Marion,
BrémondGignac Dominique,
Elmaleh Monique,
Titomanlio Luigi,
Delezoide AnneLise,
PassosBueno Maria Rita,
Verloes Alain
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31784
Subject(s) - medical genetics , medical school , university hospital , medicine , biology , family medicine , genetics , gene , medical education
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, Institute of Biosciences, University of Sâo Paulo, Sâo Paulo, Brazil Department of Ophthalmology, APHP, Robert Debré University Hospital, Paris, France INSERM U6764, APHP, Robert Debré University Hospital, Paris, France Department of Medical Imaging, APHP, Robert Debré University Hospital, Paris, France Department of Neuropediatrics, APHP, Robert Debré University Hospital, Paris, France Department of Fetal Pathology, APHP, Robert Debré University Hospital, Paris, France