Ontology highlight
ABSTRACT:
SUBMITTER: Parappil H
PROVIDER: S-EPMC3063289 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Parappil Hussain H Al Baridi Ahmad A ur Rahman Sajjad S Kitchi Mahmood H MH Ruef P P Griese M M Lohse P P Aslanidis C C Schmitz G G Koch L L Poeschl J J
BMJ case reports 20110303
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 avai ...[more]