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Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study

Athanasia Stoupa,Dulanjalee Kariyawasam,Fabienne Jabot-Hanin,Adrien Nguyen-Quoc,Sylvain Hanein,Tioka Rabeony, Caroline Elie, Sandra Colas,Caroline Thalassinos,Isabelle Oliver-Petit,Muriel Houang,Regis Coutant,Pascal Barat,Marc Nicolino,Rachel Reynaud,Marc de Kerdanet,Candace Bensignor,Sabine Baron, Catherine Raynaud-Ravni,Pierre-Francois Souchon,Juliane Leger,Mireille Castanet,Christine Bole-Feysot,Patrick Nitschke,Stanislas Lyonnet,Michel Polak,Aurore Carre

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM（2025）

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关键词
congenital hypothyroidism,thyroid dysgenesis,digenism,genomics,genetic model,targeted-NGS,DUOX2/DUOXA2
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