Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

The genetic causes of malformations of cortical development (MCD) remain largely unknown. Here we report the discovery of multiple disease-causing missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C. We find a frequent recurrence of mutations in DYNC...

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Hoofdauteurs: Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, SaintPierre, Benjamin, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N’Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J., Bahi-Buisson, Nadia, Chelly, Jamel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3826256/
https://ncbi.nlm.nih.gov/pubmed/23603762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2613
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