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Article

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.

Pediatrics - 1 Dec 2012

Wambach Jennifer A, Wegner Daniel J, Depass Kelcey, Heins Hillary, Druley Todd E, Mitra Robi D, An Ping, Zhang Qunyuan, Nogee Lawrence M, Cole F Sessions, Hamvas Aaron

Abstract excerpt

BACKGROUND AND OBJECTIVE: Neonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability. METHODS: Using next-generation, pooled sequencing of race-stratified DNA samples from infants ≥34 weeks' gestation with and without RDS (n = 513) and from a Missouri population-based cohort (n = 1066), we scanned all exons of 5...

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Source

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Identifiers

PMID: 23166334
DOI: 10.1542/peds.2012-0918
PMCID: PMC3507255

Genes

ABCA3
CHPT1
LPCAT1
SFTPC

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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