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Article

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

American journal of respiratory and critical care medicine - 15 Jun 2014

Wambach Jennifer A, Casey Alicia M, Fishman Martha P, Wegner Daniel J, Wert Susan E, Cole F Sessions, Hamvas Aaron, Nogee Lawrence M

Abstract excerpt

RATIONALE: Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private. OBJECTIVES: To determine genotype-phenotype correlations for recessive ABCA3 mutations. METHODS: We reviewed all published and unpublished ABCA3 sequence and phenotype data from our prospective genetic studies of...

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Share to ATP-Binding Cassette Transporters
Share to Genetic Markers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

Share to Lung Diseases, Interstitial

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Share to Respiratory Distress Syndrome, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 24871971
DOI: 10.1164/rccm.201402-0342OC
PMCID: PMC4226019

Genes

ABCA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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