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- Title
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
- Authors
Thevenon, Julien; Lopez, Estelle; Keren, Boris; Heron, Delphine; Mignot, Cyril; Altuzarra, Cecilia; Béri-Dexheimer, Mylène; Bonnet, Céline; Magnin, Eloi; Burglen, Lydie; Minot, Delphine; Vigneron, Jacqueline; Morle, Sophie; Anheim, Mathieu; Charles, Perrine; Brice, Alexis; Gallagher, Louise; Amiel, Jeanne; Haffen, Emmanuel; Mach, Corinne; Depienne, Christel; Doummar, Diane; Bonnet, Marlène; Duplomb, Laurence; Carmignac, Virginie; Callier, Patrick; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Roze, Virginie; Aral, Bernard; Razavi, Ferechte; Jonveaux, Philippe; Faivre, Laurence; Thauvin-Robinet, Christel
- Abstract
Non-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a consequence, the identification of the genes responsible for these phenotypes remained limited.
- Publication
Journal of medical genetics, 2012, Vol 49, Issue 6, p400
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2012-100856