Abstract
We report on a term newborn with an unusual presentation and course of a rare lung disease due to mutation in SFTPC gene. This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations.
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Acknowledgements
We acknowledge Dr Lawrence Nogee, who guided and assisted us with the surfactant protein analysis.
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Soraisham, A., Tierney, A. & Amin, H. Neonatal respiratory failure associated with mutation in the surfactant protein C gene. J Perinatol 26, 67–70 (2006). https://doi.org/10.1038/sj.jp.7211417
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DOI: https://doi.org/10.1038/sj.jp.7211417
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