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Article

NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.

Italian journal of pediatrics - 24 Jun 2015

Monti Sara, Nicoletti Annalisa, Cantasano Antonella, Krude Heiko, Cassio Alessandra

Abstract excerpt

BACKGROUND: A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation. Aim of the study was to elucidate the genotype-phenotype correlation in our patient....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26103969
DOI: 10.1186/s13052-015-0150-6
PMCID: PMC4477322

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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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