Publications:

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

Frontiers In Endocrinology

Stoupa, Athanasia A; Al Hage Chehade, Ghada G; Chaabane, Rim R; Kariyawasam, Dulanjalee D; Szinnai, Gabor G; Hanein, Sylvain S; Bole-Feysot, Christine C; Fourrage, Cécile C; Nitschke, Patrick P; Thalassinos, Caroline C; Pinto, Graziella G; Mnif, Mouna M; Baron, Sabine S; De Kerdanet, Marc M; Reynaud, Rachel R; Barat, Pascal P; Hachicha, Mongia M; Belguith, Neila N; Polak, Michel M; Carré, Aurore A

Publication Date: 2020

Variant appearance in text: TG: 5182T>C

PubMed Link: 33692749

Variant Present in the following documents:

• Main text
• fendo-11-545339.pdf

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