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Thyroid dyshormonogenesis is mainly caused by <i><scp>TPO</scp></i> mutations in consanguineous community

13 Dec 2012

Abstract excerpt

OBJECTIVE: In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). CONTEXT: Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have...

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PMID: 23236987
DOI: 10.1111/cen.12127

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