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Article

Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.

The Journal of clinical endocrinology and metabolism - 1 Jan 2021

Camats Núria, Baz-Redón Noelia, Fernández-Cancio Mónica, Clemente María, Campos-Martorell Ariadna, Jaimes Nadya, Antolín María, Garcia-Arumí Elena, Blasco-Pérez Laura, Paramonov Ida, Mogas Eduard, Soler-Colomer Laura, Yeste Diego

Abstract excerpt

PURPOSE: Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by a total/partial blockage of the biochemical processes of thyroid-hormone synthesis and secretion. Paired box 8 (PAX8) is essential for thyroid morphogenesis and thyroid hormone synthesis. We aimed to identify PAX8 variants in patients with thyroid dyshormonogenesis and to analyze them with in vitro functional studies....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33029631
DOI: 10.1210/clinem/dgaa711

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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