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Article

Genetics of primary congenital hypothyroidism-a review.

Hormones (Athens, Greece) - 1 Jun 2021

Kostopoulou Eirini, Miliordos Konstantinos, Spiliotis Bessie

Abstract excerpt

PURPOSE: Congenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone production detected at birth, caused either by absent, underdeveloped or ectopic thyroid gland (dysgenesis), or by defected thyroid hormone biosynthesis (dyshormonogenesis). A genetic component has been identified in many cases of CH. This review summarizes the clinical and biochemical features of the genetic causes of...

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Identifiers

PMID: 33400193
DOI: 10.1007/s42000-020-00267-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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