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Article

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

Gene - 25 Jan 2014

Gonçalves Jean-Pierre, Pinheiro Liliana, Costa Miguel, Silva Albina, Gonçalves Augusta, Pereira Almerinda

Abstract excerpt

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

Read the complete abstract on PubMed

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Share to ATP-Binding Cassette Transporters
Share to ABCA3 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

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Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 24269975
DOI: 10.1016/j.gene.2013.11.015

Genes

ABCA3

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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