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Author (up) Hallik, M.; Annilo, T.; Ilmoja, M.-L.
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  Title Different course of lung disease in two siblings with novel ABCA3 mutations Type Journal Article
  Year 2013 Publication European Journal of Pediatrics Abbreviated Journal Eur J Pediatr  
  Volume Issue Pages  
  Abstract Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease. We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease. The index case is a baby girl with severe interstitial lung disease that manifested on the first days of life. Her 4-year-old brother carrying the same mutations has no signs of lung disease so far. Our findings suggest the contribution of other genetic, epigenetic and environmental factors to discordant phenotype observed in patients carrying the same mutations in the ABCA3 gene. The clinical course of the index case suggests benefit of combined medical therapy in treating infants with ABCA3 deficiency.  
  Address Department of Anesthesiology and Intensive Care, Clinic of Pediatrics, Tallinn Children's Hospital, Tervise 28, 13419, Tallinn, Estonia,  
  Corporate Author Thesis  
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  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0340-6199 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:23846195 Approved no  
  Call Number @ @ Serial 40936  
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