1 results match your criteria: "Rainbow Childrens Hospital and Perinatal Center[Affiliation]"
ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.
Indian Pediatr
July 2014
Department of Neonatology, Rainbow Childrens Hospital and Perinatal Center, Hyderabad, Andhra Pradesh, India. Correspondence to: Dr Preetham Kumar Poddutoor, Department of Neonatology, Rainbow Childrens Hospital and Perinatal Center, Hyderabad, Andhra Pradesh, India.
Background: Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
Case Characteristics: A late preterm (36 wks) who presented with respiratory distress syndrome.
Observation: He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production.