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...
Topics
- ATP-Binding Cassette Transporters
- Female
- Homozygote
- Humans
- Infant, Newborn
- Mutation
- Respiratory Distress Syndrome, Newborn
- Term Birth