Abstract
Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.
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Ciantelli, M., Ghirri, P., Presi, S. et al. Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report. J Perinatol 31, 70–72 (2011). https://doi.org/10.1038/jp.2010.122
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DOI: https://doi.org/10.1038/jp.2010.122
