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Article

Genetic causes of congenital hypothyroidism due to dyshormonogenesis.

Current opinion in pediatrics - 1 Aug 2011

Grasberger Helmut, Refetoff Samuel

Abstract excerpt

PURPOSE OF REVIEW: Overview of congenital hypothyroidism caused by thyroid hormone synthesis defects, the current understanding of their pathophysiology, and clinical implications of molecular diagnoses. RECENT FINDINGS: Genetic defects in all known thyroid-specific factors required for thyroid hormone synthesis have been described. These include defects in iodide trapping (NIS), in the facilitated iodide efflux...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21543982
DOI: 10.1097/MOP.0b013e32834726a4
PMCID: PMC3263319

Genes

DUOX2
DUOXA2

Provenance

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