Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A Cause Malformations of Cortical Development and Microcephaly
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stephanie Valence, Benjamin Saint Pierre, Madison Oger, et al. To cite this version: Karine Poirier, Nicolas Lebrun, Loic Broix, Guoling Tian, Yoann Saillour, et al.. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and micro- cephaly.. Nature Genetics, Nature Publishing Group, 2013, 45 (6), pp.639-47. 10.1038/ng.2613. inserm-00838073 HAL Id: inserm-00838073 https://www.hal.inserm.fr/inserm-00838073 Submitted on 8 Oct 2013 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Karine Poirier1,2, Nicolas Lebrun1,2, Loic Broix1,2*, Guoling Tian3*, Yoann Saillour1,2, Cécile Boscheron4, Elena Parrini5,6, Stephanie Valence1,2, Benjamin SaintPierre1,2, Madison Oger1,2, Didier Lacombe7, David Geneviève8, Elena Fontana9, Franscesca Darra9, Claude Cances10, Magalie Barth11,12, Dominique Bonneau11,12, Bernardo Dalla Bernadina9, Sylvie N’Guyen13, Cyril Gitiaux1,2,14,, Philippe Parent15, Vincent des Portes16, Jean Michel Pedespan17, Victoire Legrez18, Laetitia Castelnau-Ptakine1,2, Patrick Nitschke19, Thierry Hieu19, Cecile Masson19, Diana Zelenika20, Annie Andrieux4, Fiona Francis21,22, Renzo Guerrini5,6, Nicholas J.
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