We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
- Authors
Wambach, Jennifer A.; Wegner, Daniel J.; Kitzmiller, Joseph; White, Frances V.; Heins, Hillary B.; Ping Yang; Paul, Alexander J.; Granadillo, Jorge L.; Eghtesady, Pirooz; Kuklinski, Cadence; Turner, Tiffany; Fairman, Korre; Stone, Kristyne; Wilson, Theodore; Breman, Amy; Smith, Janice; Schroeder, Molly C.; Neidich, Julie A.; Whitsett, Jeffrey A.; Sessions Cole, F.
- Abstract
The article focuses on a study of neonatal respiratory failure caused by a homozygous, intragenic tandem duplication of the Surfactant Protein-B (SFTPB) gene, leading to SP-B deficiency. Topics discussed include the molecular details of the genetic variant, the significance of advanced sequencing techniques in detecting complex structural variations, and the implications for understanding and managing rare respiratory disorders.
- Subjects
ETIOLOGY of diseases; MOLECULAR biology; POSITIVE pressure ventilation; LUNGS
- Publication
American Journal of Respiratory Cell & Molecular Biology, 2024, Vol 70, Issue 1, p78
- ISSN
1044-1549
- Publication type
Article
- DOI
10.1165/rcmb.2023-0156le