Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

Wambach et al discuss how homozygous intragenic tandem duplication of SFTPB causes neonatal respiratory failure. This study reports a case of neonatal respiratory failure caused by a homozygous intragenic tandem duplication of the SFTPB gene. The duplication was identified in a term infant male prob...

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Veröffentlicht in:	American journal of respiratory cell and molecular biology 2024-01, Vol.70 (1), p.78-80
Hauptverfasser:	Wambach, Jennifer A, Wegner, Daniel J, Kitzmiller, Joseph, White, Frances V, Heins, Hillary B, Yang, Ping, 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, Cole, F Sessions
Format:	Artikel
Sprache:	eng
Schlagworte:	Alu elements Cellular biology Chromosome rearrangements Copy number Correspondence Genetic screening Genetic testing Homozygote Humans Infant, Newborn Infants Lung transplantation Neonates Nucleotide sequence Pathogenicity Prenatal development Respiratory diseases Respiratory failure Respiratory Insufficiency - genetics
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