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Article

DUOXS defects: Genotype-phenotype correlations.

Annales d'endocrinologie - 1 Apr 2011

Fugazzola L, Muzza M, Weber G, Beck-Peccoz P, Persani L

Abstract excerpt

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, accounting for up to 1:1500 newborns per year. CH can be related to defects in either formation and migration of the thyroid gland (dysgenesis) or thyroid hormone synthesis. The pathogenesis of dysgenetic CH is still largely unknown. On the contrary, several mutations have been found in different genes involved in thyroid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21511237
DOI: 10.1016/j.ando.2011.03.004

Genes

DUOX2
TPO
DUOXA2

Provenance

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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The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.Semantic proximity Read ↗

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