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Article

Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis.

Arquivos brasileiros de endocrinologia e metabologia - 1 Apr 2012

Brust Ester S, Beltrao Cristine B, Chammas Maria C, Watanabe Tomoco, Sapienza Marcelo T, Marui Suemi

Abstract excerpt

OBJECTIVES: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. SUBJECTS AND METHODS: Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patients, and TSH receptor...

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Share to Congenital Hypothyroidism
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22666732
DOI: 10.1590/s0004-27302012000300004

Genes

PAX8
TSHR

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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