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Article

Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.

BMJ case reports - 3 Mar 2011

Parappil Hussain, Al Baridi Ahmad, ur Rahman Sajjad, Kitchi Mahmood H, Ruef P, Griese M, Lohse P, Aslanidis C, Schmitz G, Koch L, Poeschl J

Abstract excerpt

The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management and long-term outcome of a patient carrying this novel genetic defect have not been reported in the literature...

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Share to ATP-Binding Cassette Transporters
Share to ABCA3 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Infant, Newborn

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Share to Respiratory Distress Syndrome, Newborn

Source

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Identifiers

PMID: 22707629
DOI: 10.1136/bcr.10.2010.3427
PMCID: PMC3063289

Genes

ABCA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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