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Article

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.

Thyroid : official journal of the American Thyroid Association - 1 Sept 2008

Ferrara Alfonso Massimiliano, De Michele Giuseppe, Salvatore Elena, Di Maio Luigi, Zampella Emilia, Capuano Serena, Del Prete Giuseppina, Rossi Giuseppina, Fenzi Gianfranco, Filla Alessandro, Macchia Paolo Emidio

Abstract excerpt

BACKGROUND: We studied a boy with congenital hypothyroidism, benign hereditary chorea, and respiratory distress. His mother and his grandfather were affected by hypothyroidism with a late onset and benign hereditary chorea. The aim of this study was to establish the genetic defects that cause that phenotype and study the molecular mechanisms of the pathology. METHODS: NKX2.1, PAX8, NKX2.5, and TAZ genes were...

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PMID: 18788921
DOI: 10.1089/thy.2008.0085

Genes

PAX8

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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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