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

OBJECTIVE: To elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS). STUDY DESIGN: We studied 19 well-characterized patients diagnosed with CH and DH by targeted NGS...

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Detaylı Bibliyografya
Yayımlandı:Front Endocrinol (Lausanne)
Asıl Yazarlar: Stoupa, Athanasia, Al Hage Chehade, Ghada, Chaabane, Rim, Kariyawasam, Dulanjalee, Szinnai, Gabor, Hanein, Sylvain, Bole-Feysot, Christine, Fourrage, Cécile, Nitschke, Patrick, Thalassinos, Caroline, Pinto, Graziella, Mnif, Mouna, Baron, Sabine, De Kerdanet, Marc, Reynaud, Rachel, Barat, Pascal, Hachicha, Mongia, Belguith, Neila, Polak, Michel, Carré, Aurore
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2021
Konular:
Endocrinology
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7937947/
https://ncbi.nlm.nih.gov/pubmed/33692749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2020.545339
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