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Article

Genetic Variability of the Paired Box Transcription Factor; PAX8 Gene: Guidance Towards Treatment Strategies in a Cohort of Congenital Hypothyroidism.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 May 2021

El-Ella Sohier S Abou, Khattab Essam Shawky A E H, Beddah Rehab K, Barseem Naglaa Fathy

Abstract excerpt

The contribution of PAX8 genetic variants to congenital hypothyroidism (CH) is not well understood. We aimed to study the genetic variability of exons 3 and 5 of PAX8 gene among a cohort of children with congenital hypothyroidism in correspondence to their clinical aspect. Blood samples were collected from 117 children (63 girls and 54 boys) with CH and enrolled as cases (Group I). All cases underwent biochemical...

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Identifiers

PMID: 33862642
DOI: 10.1055/a-1409-5310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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