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Department of Pharmacology and Therapeutics, McGill University, Montreal, Quebec, Canada
Integrated Program in Neuroscience, McGill University, Montreal, Quebec, Canada
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Introduction Congenital central hypothyroidism (CCH) may affect as many as one in 13,000 people ( 1 ). In CCH, thyroid hormone levels are low to low-normal without the expected increases in thyrotropin (TSH), implicating defects in the brain
Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel
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Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel
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Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel
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Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel
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subsequently cleaved to result in a mature protein of 118 amino acids ( 1 ). TSHB mutations cause congenital non-goitrous hypothyroidism 4 (OMIM#275100), clinically presenting as profound central hypothyroidism, through loss of function mechanism. In