Produção Nacional
Revisado por pares
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
2007; Wiley; Volume: 143A; Issue: 13 Linguagem: Inglês
10.1002/ajmg.a.31784
ISSN1552-4833
AutoresBoris Keren, Oscar Suzuki, Marion Gérard‐Blanluet, Dominique Brémond‐Gignac, Monique Elmaleh, Luigi Titomanlio, Anne‐Lise Delezoide, Maria Rita Passos‐Bueno, Alain Verloès,
Tópico(s)Genetic and Kidney Cyst Diseases
ResumoAmerican Journal of Medical Genetics Part AVolume 143A, Issue 13 p. 1514-1518 Research Letter CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene† Boris Keren, Boris Keren Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorOscar T. Suzuki, Oscar T. Suzuki Human Genome Center, Department of Genetics and Evolution Biology, Institute of Biosciences, University of Sâo Paulo, Sâo Paulo, BrazilSearch for more papers by this authorMarion Gérard-Blanluet, Marion Gérard-Blanluet Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorDominique Brémond-Gignac, Dominique Brémond-Gignac Department of Ophthalmology, APHP, Robert Debré University Hospital, Paris, France INSERM U6764, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorMonique Elmaleh, Monique Elmaleh Department of Medical Imaging, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorLuigi Titomanlio, Luigi Titomanlio Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, France Department of Neuropediatrics, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorAnne-Lise Delezoide, Anne-Lise Delezoide Department of Fetal Pathology, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorMaria Rita Passos-Bueno, Maria Rita Passos-Bueno Human Genome Center, Department of Genetics and Evolution Biology, Institute of Biosciences, University of Sâo Paulo, Sâo Paulo, BrazilSearch for more papers by this authorAlain Verloes, Corresponding Author Alain Verloes [email protected] Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, France INSERM U6764, APHP, Robert Debré University Hospital, Paris, FranceUnité de Génétique, Hôpital Robert Debre, 48 bd Serurier, 75019 Paris, France.Search for more papers by this author Boris Keren, Boris Keren Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorOscar T. Suzuki, Oscar T. Suzuki Human Genome Center, Department of Genetics and Evolution Biology, Institute of Biosciences, University of Sâo Paulo, Sâo Paulo, BrazilSearch for more papers by this authorMarion Gérard-Blanluet, Marion Gérard-Blanluet Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorDominique Brémond-Gignac, Dominique Brémond-Gignac Department of Ophthalmology, APHP, Robert Debré University Hospital, Paris, France INSERM U6764, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorMonique Elmaleh, Monique Elmaleh Department of Medical Imaging, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorLuigi Titomanlio, Luigi Titomanlio Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, France Department of Neuropediatrics, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorAnne-Lise Delezoide, Anne-Lise Delezoide Department of Fetal Pathology, APHP, Robert Debré University Hospital, Paris, FranceSearch for more papers by this authorMaria Rita Passos-Bueno, Maria Rita Passos-Bueno Human Genome Center, Department of Genetics and Evolution Biology, Institute of Biosciences, University of Sâo Paulo, Sâo Paulo, BrazilSearch for more papers by this authorAlain Verloes, Corresponding Author Alain Verloes [email protected] Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debré University Hospital, Paris, France INSERM U6764, APHP, Robert Debré University Hospital, Paris, FranceUnité de Génétique, Hôpital Robert Debre, 48 bd Serurier, 75019 Paris, France.Search for more papers by this author First published: 01 June 2007 https://doi.org/10.1002/ajmg.a.31784Citations: 24 † How to cite this article: Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide A-L, Passos-Bueno MR, Verloes A. 2007. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. Am J Med Genet Part A 143A:1514–1518. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Cook GR, Knobloch WH. 1982. Autosomal recessive vitreoretinopathy and encephaloceles. Am J Ophthalmol 94: 18–25. Czeizel AE, Goblyos P, Kustos G, Mester E, Paraicz E. 1992. The second report of Knobloch syndrome. Am J Med Genet 42: 777–779. Duh EJ, Yao YG, Dagli M, Goldberg MF. 2004. 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Wilson C, Aftimos S, Pereira A, McKay R. 1998. Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies. Am J Med Genet 78: 286–290. Citing Literature Volume143A, Issue131 July 2007Pages 1514-1518 ReferencesRelatedInformation
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