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ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case Study

2024-08-20

Abstract excerpt

<h4>Background: </h4> Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5-7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal RDS to interstitial lung disease, associated with increased morbidity and mortality. This study aims t...

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Literature Corpus work
1490870b-e5aa-59b1-be44-29da5324cec7
DOI
10.20944/preprints202408.1302.v1
Open publication

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ABCA3 c.838C&gt;T (p.Arg280Cys, R280C) and c.697C&gt;T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: a Review of the Literature and Family Case StudyDOI 10.20944/preprints202408.1302.v1
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