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Article

Genetics and management of congenital hypothyroidism.

Best practice & research. Clinical endocrinology & metabolism - 1 Aug 2018

Persani Luca, Rurale Giuditta, de Filippis Tiziana, Galazzi Elena, Muzza Marina, Fugazzola Laura

Abstract excerpt

Several evidences support a relevant genetic origin for Congenital Hypothyroidism (CH), however familial forms are uncommon. CH can be due to morphogenetic or functional defects and several genes have been originally associated either with thyroid dysgenesis or dyshormonogenesis, with a highly variable expressivity and a frequently incomplete penetrance of the genetic defects. The phenotype-driven genetic...

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Identifiers

PMID: 30086865
DOI: 10.1016/j.beem.2018.05.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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