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.
MeSH terms
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Fatal Outcome
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Humans
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Infant, Newborn
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Male
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Mutation*
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Pulmonary Surfactant-Associated Protein C / genetics*
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Pulmonary Surfactants / therapeutic use
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Radiography
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Respiration, Artificial
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Respiratory Distress Syndrome, Newborn / diagnostic imaging
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Respiratory Distress Syndrome, Newborn / genetics*
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Respiratory Distress Syndrome, Newborn / therapy
Substances
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Pulmonary Surfactant-Associated Protein C
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Pulmonary Surfactants