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Article

[Genetic of congenital hypothyroidism].

Medecine sciences : M/S - 1 Mar 2022

Stoupa Athanasia, Kariyawasam Dulanjalee, Polak Michel, Carré Aurore

Abstract excerpt

Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). DH accounts for about 35% of CH and a genetic...

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Identifiers

PMID: 35333163
DOI: 10.1051/medsci/2022028

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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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