Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis

Context: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold increase in relative risk among first-degree relatives (1 in 100 compared with a birth prevalence of 1 in 4000 in the general p...

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Veröffentlicht in:	Thyroid (New York, N.Y.) N.Y.), 2022-05, Vol.32 (5), p.486-495
Hauptverfasser:	Larrivée-Vanier, Stéphanie, Jean-Louis, Martineau, Magne, Fabien, Bui, Helen, Rouleau, Guy A, Spiegelman, Dan, Samuels, Mark E, Kibar, Zoha, Van Vliet, Guy, Deladoëy, Johnny
Format:	Artikel
Sprache:	eng
Schlagworte:	Original Studies Thyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Online-Zugang:	Volltext
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