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Article

The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.

PloS one - 1 Jan 2012

van Engelen Klaartje, Mommersteeg Mathilda T M, Baars Marieke J H, Lam Jan, Ilgun Aho, van Trotsenburg A S Paul, Smets Anne M J B, Christoffels Vincent M, Mulder Barbara J M, Postma Alex V

Abstract excerpt

NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated with thyroid dysgenesis, among which the p.A119...

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Share to Cell Nucleus
Share to Homeobox Protein Nkx-2.5
Share to Homeodomain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Promoter Regions, Genetic

Share to Protein Transport

Share to Sequence Alignment

Share to Thyroid Dysgenesis

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Source

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Identifiers

PMID: 23285148
DOI: 10.1371/journal.pone.0052685
PMCID: PMC3532205

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23285148-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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