PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis


Permanent congenital hypothyroidism (CH) is a common disease that occurs in 1 of 3,000–4,000 newborns. Except in rare cases due to hypothalamic or pituitary defects, CH is characterized by elevated levels of thyroid-stimulating hormone (TSH) resulting from reduced thyroid function. When thyroid hormone therapy is not initiated within the first two months of… (More)
DOI: 10.1038/ng0598-83


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