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BMJ Case Rep. 2011 Mar 3;2011. pii: bcr1020103427. doi: 10.1136/bcr.10.2010.3427.

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

Author information

1
Department of Neonatology, Women's Hospital, Hamad Medical Corporation, Doha, State of Qatar.

Abstract

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 before. Currently, lung transplant appears to be the only long-term survival option available, for which, our patient is being evaluated.

PMID:
22707629
PMCID:
PMC3063289
DOI:
10.1136/bcr.10.2010.3427
[Indexed for MEDLINE]
Free PMC Article
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