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Article

Persistent Lung Disease in Adults with NKX2.1 Mutation and Familial Neuroendocrine Cell Hyperplasia of Infancy.

Annals of the American Thoracic Society - 1 Aug 2016

Nevel Rebekah J, Garnett Errine T, Worrell John A, Morton Ronald L, Nogee Lawrence M, Blackwell Timothy S, Young Lisa R

Abstract excerpt

RATIONALE: Neuroendocrine cell hyperplasia of infancy (NEHI) is a diffuse lung disease that presents in infancy and improves during childhood. Long-term outcomes have not previously been described. In one familial cohort, we have reported that NEHI is associated with a heterozygous variant of NKX2.1/TTF1. OBJECTIVES: Our objective was to determine whether pulmonary abnormalities persist in adults with NEHI, to...

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Source

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Identifiers

PMID: 27187870
DOI: 10.1513/AnnalsATS.201603-155BC
PMCID: PMC5021081

Genes

TTF1

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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