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

Athanasia Stoupa,Ghada Al Hage Chehade,Rim Chaabane,Dulanjalee Kariyawasam,Gabor Szinnai,Sylvain Hanein,Christine Bole-Feysot,Cecile Fourrage,Patrick Nitschke,Caroline Thalassinos,Graziella Pinto,Mouna Mnif,Sabine Baron,Marc De Kerdanet,Rachel Reynaud,Pascal Barat,Mongia Hachicha,Neila Belguith,Michel Polak,Aurore Carre

Frontiers in Endocrinology（2021）

Cited 18|Views36
Key words
congenital hypothyroidism,dyshormonogenesis,mutations,targeted next-generation sequencing,gland in situ
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