Articles with "variant causing" as a keyword



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Identification of a Novel Genetic Variant Causing abca3 Surfactant Deficiency in a Newborn

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Published in 2018 at "Pediatrics"

DOI: 10.1542/peds.141.1_meetingabstract.748

Abstract: Background Surfactant is produced by alveolar type 2 cells and secreted into the alveoli to prevent atelectasis. Respiratory Distress Syndrome (RDS) is caused by surfactant deficiency due to immature lungs in premature infants. Congenital surfactant… read more here.

Keywords: novel genetic; variant causing; identification novel; genetic variant ... See more keywords