disturbed wnt signalling due to a mutation in ccdc88c ... fileling pathway in peripheral blood from...

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Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2010 Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A DOI: https://doi.org/10.1159/000319859 Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-39534 Journal Article Published Version Originally published at: Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum. Molecular Syndromology:99-112. DOI: https://doi.org/10.1159/000319859

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Page 1: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C

Zurich Open Repository andArchiveUniversity of ZurichMain LibraryStrickhofstrasse 39CH-8057 Zurichwww.zora.uzh.ch

Year: 2010

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes anAutosomal Recessive Non-Syndromic Hydrocephalus with Media

Diverticulum

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W;Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A

DOI: https://doi.org/10.1159/000319859

Posted at the Zurich Open Repository and Archive, University of ZurichZORA URL: https://doi.org/10.5167/uzh-39534Journal ArticlePublished Version

Originally published at:Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W;Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signallingdue to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus withMedia Diverticulum. Molecular Syndromology:99-112.DOI: https://doi.org/10.1159/000319859

Page 2: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 3: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 4: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 5: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 6: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 7: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 8: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 9: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 10: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 11: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 12: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 13: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C
Page 14: Disturbed Wnt Signalling due to a Mutation in CCDC88C ... fileling pathway in peripheral blood from the index patient and her healthy mother revealed increased mRNA levels of CCDC88C