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High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.

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第一作者: Athanasia,Stoupa
第一单位: INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.;IMAGINE Institute affiliate, Paris, France.;Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.
作者单位: INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.;IMAGINE Institute affiliate, Paris, France.;Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France. [1] Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France. [2] Laboratory of Human Molecular Genetics, Medicine School, University of Sfax, Sfax, Tunisia. [3] Pediatric Immunology, Department of Biomedicine, University of Basel, Basel, Switzerland.;Pediatric Endocrinology, University Children's Hospital Basel, University of Basel, Basel, Switzerland. [4] INSERM U1163, IMAGINE Institute, Translational Genetics, Université Paris Descartes, Sorbonne Paris Cité, Paris, France. [5] Genomics Platform, INSERM UMR 1163, Paris Descartes Sorbonne Paris Cite University, Imagine Institute, Paris, France. [6] Bioinformatics Platform, Paris Descartes University, IMAGINE Institute, Paris, France. [7] Endocrinology Department, CHU Hedi Chaker, Sfax, Tunisia. [8] Pediatrics Department, CHU Nantes, Nantes, France. [9] Pediatrics Department, CHU Rennes, Rennes, France. [10] Pediatrics Department, CHU La Timone, Marseille, France. [11] CHU de Bordeaux, Pediatric Endocrinology, Bordeaux, France. [12] Pediatrics Department, CHU Hedi Chaker, Sfax, Tunisia. [13] Laboratory of Human Molecular Genetics, Medicine School, University of Sfax, Sfax, Tunisia.;Medical Genetics Department, CHU Hedi Chaker, Sfax, Tunisia. [14] INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.;IMAGINE Institute affiliate, Paris, France.;Pediatric Endocrinology, Gynecology and Diabetology Unit, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France.;Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Necker-Enfants Malades University Hospital, Paris, France.;Centre Régional de Dépistage Néonatal (CRDN) Ile de France, Paris, France. [15] INSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.;IMAGINE Institute affiliate, Paris, France. [16]
DOI 10.3389/fendo.2020.545339
PMID 33692749
发布时间 2021-05-26
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