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- W1916636701 abstract "Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report." @default.
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- W1916636701 date "2013-12-17" @default.
- W1916636701 modified "2023-10-06" @default.
- W1916636701 title "Survival of an infant with homozygous surfactant protein C (SFTPC) mutation" @default.
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- W1916636701 doi "https://doi.org/10.1002/ppul.22976" @default.
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