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Article

Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015

Kumorowicz-Czoch Malgorzata, Madetko-Talowska Anna, Dudek Adam, Tylek-Lemanska Dorota

Abstract excerpt

BACKGROUND: The morphological and biochemical phenotype of PAX8 mutation in patients with congenital hypothyroidism (CH) is variable. The contribution of mutations in PAX8 gene in children with CH and dysgenetic thyroid glands still remains a subject of interest for researchers. PATIENTS AND METHODS: Some 48 children (37 girls and 11 boys) with CH associated with thyroid ectopy (n=22), agenesis (n=10), hypoplasia...

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Source

Identifiers

PMID: 25720050
DOI: 10.1515/jpem-2014-0310

Genes

PAX8

Variants

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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