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Article

Novel NKX2.1 mutation associated with hypothyroidism and lethal respiratory failure in a full-term neonate.

Journal of perinatology : official journal of the California Perinatal Association - 1 Feb 2013

Gillett E S, Deutsch G H, Bamshad M J, McAdams R M, Mann P C

Abstract excerpt

We report a case of lethal neonatal hypoxic respiratory failure and hypothyroidism in an infant with a novel missense mutation in NKX2.1.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23361500
DOI: 10.1038/jp.2012.50

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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