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GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes.

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第一作者： A,Bonnefond

第一单位： Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.;Lille Nord de France University, Lille, France.

作者： A,Bonnefond ^[1] ; O,Sand ^[1] ; B,Guerin ^[2] ; E,Durand ^[1] ; F,De Graeve ^[1] ; M,Huyvaert ^[1] ; L,Rachdi ^[3] ; J,Kerr-Conte ^[4] ; F,Pattou ^[5] ; M,Vaxillaire ^[1] ; M,Polak ^[6] ; R,Scharfmann ^[3] ; P,Czernichow ^[7] ; P,Froguel ^[8]

作者单位： Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France.;Lille Nord de France University, Lille, France. ^[1] Department of Paediatrics, Hospital of Pau, Pau, France. ^[2] Inserm-U845, Research Center Growth and Signalling, Paris Descartes University, Sorbonne Paris Cité, Necker Hospital, Paris, France. ^[3] Lille Nord de France University, Lille, France.;Inserm-U859, Lille, France. ^[4] Lille Nord de France University, Lille, France.;Inserm-U859, Lille, France.;Department of Endocrine Surgery, Hospital of Lille, Lille, France. ^[5] Inserm-U845, Research Center Growth and Signalling, Paris Descartes University, Sorbonne Paris Cité, Necker Hospital, Paris, France.;Department of Paediatric Endocrinology, Necker Enfants Malades Hospital, Paris, France. ^[6] Department of Paediatric Endocrinology, Necker Enfants Malades Hospital, Paris, France. ^[7] Genomics and Metabolic Diseases, CNRS UMR8199 - Lille Institute of Biology, 1, Rue du Prof Calmette, B.P. 245, 59019, Lille Cedex, France. p.froguel@imperial.ac.uk.;Lille Nord de France University, Lille, France. p.froguel@imperial.ac.uk.;Department of Genomics of Common Disease, School of Public Health, Imperial College London, London, UK. p.froguel@imperial.ac.uk. ^[8]