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Article

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2018

Stoupa Athanasia, Chaabane Rim, Guériouz Manelle, Raynaud-Ravni Catherine, Nitschke Patrick, Bole-Feysot Christine, Mnif Mouna, Ammar Keskes Leila, Hachicha Mongia, Belguith Neila, Polak Michel, Carré Aurore

Abstract excerpt

BACKGROUND: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis [TD]) or hormone synthesis. A genetic cause is identified in <10% of TD patients. The aim was to identify novel candidate genes in patients with TD using next-generation sequencing tools. PATIENT FINDINGS: Whole exome sequencing was used to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29790453
DOI: 10.1089/thy.2017.0502

Genes

TPO

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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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