Article
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
Journal of medical genetics - 1 Jun 2018
Lefebvre Mathilde, Dieux-Coeslier Anne, Baujat Geneviève, Schaefer Elise, Judith Saint-Onge, Bazin Anne, Pinson Lucile, Attie-Bitach Tania, Baumann Clarisse, Fradin Melanie, Pierquin Genevieve, Julia Sophie, Quélin Chloé, Doray Bérénice, Berg Sylvie, Vincent-Delorme Catherine, Lambert Laetitia, Bachmann Nadine, Lacombe Didier, Isidor Bertrand, Laurent Nicole, Joelle Roume, Blanchet Patricia, Odent Sylvie, Kervran Dominique, Leporrier Nathalie, Abel Carine, Segers Karine, Guiliano Fabienne, Ginglinger-Fabre Emmanuelle, Selicorni Angelo, Goldenberg Alice, El Chehadeh Salima, Francannet Christine, Demeer Benedicte, Duffourd Yannis, Thauvin-Robinet Christel, Verloes Alain, Cormier-Daire Valerie, Riviere Jean Baptiste, Faivre Laurence, Thevenon Julien
Abstract excerpt
BACKGROUND: Segmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated due to the wide range of phenotypes and classification issues. The genes involved are in the Notch signalling pathway, which is a key system in somitogenesis. Here we report on mutations identified in a diagnosis cohort of SDV. We focused on...
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