congenital hypothyroidism
The objective of this study was to screen and subsequently identify TPO gene mutations in patients with congenital hypothyroidism with evidence of total iodine organification defects (TIOD) or partial iodine organification defect (PIOD) as defined by the perchlorate discharge test.
The objective of this study was to screen and subsequently identify <span class="gene" id="14751036-2-68-71">TPO</span> gene mutations in patients with <span class="disease" id="14751036-2-104-129">congenital hypothyroidism</span> with evidence of total iodine organification defects (TIOD) or partial iodine organification defect (PIOD) as defined by the perchlorate discharge test.