The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

INTRODUCTION: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of tar...

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Autores principales: Levaillant, Lucie, Bouhours-Nouet, Natacha, Illouz, Frédéric, Amsellem Jager, Jessica, Bachelot, Anne, Barat, Pascal, Baron, Sabine, Bensignor, Candace, Brac De La Perriere, Aude, Braik Djellas, Yasmine, Caillot, Morgane, Caldagues, Emmanuelle, Campas, Marie-Neige, Caquard, Marylène, Cartault, Audrey, Cheignon, Julie, Decrequy, Anne, Delemer, Brigitte, Dieckmann, Katherine, Donzeau, Aurélie, Doye, Emilie, Fradin, Mélanie, Gaudillière, Mélanie, Gatelais, Frédérique, Gorce, Magali, Hazart, Isabelle, Houcinat, Nada, Houdon, Laure, Ister-Salome, Marielle, Jozwiak, Lucie, Jeannoel, Patrick, Labarthe, Francois, Lacombe, Didier, Lambert, Anne-Sophie, Lefevre, Christine, Leheup, Bruno, Leroy, Clara, Maisonneuve, Benedicte, Marchand, Isis, Marquant, Emeline, Muszlak, Matthias, Pantalone, Letitia, Pochelu, Sandra, Quelin, Chloé, Radet, Catherine, Renoult-Pierre, Peggy, Reynaud, Rachel, Rouleau, Stéphanie, Teinturier, Cécile, Thevenon, Julien, Turlotte, Caroline, Valle, Aline, Vierge, Melody, Villanueva, Carine, Ziegler, Alban, Dieu, Xavier, Bouzamondo, Nathalie, Rodien, Patrice, Prunier-Mirebeau, Delphine, Coutant, Régis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10438870/
https://www.ncbi.nlm.nih.gov/pubmed/36884306
http://dx.doi.org/10.1210/clinem/dgad119

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