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Article

Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.

Pediatric pulmonology - 1 Mar 2014

Arıkan-Ayyıldız Zeynep, Caglayan-Sozmen Sule, Isık Sakine, Deterding Robin, Dishop Megan K, Couderc Remy, Epaud Ralph, Louha Malek, Uzuner Nevin

Abstract excerpt

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...

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Source

Identifiers

PMID: 24347240
DOI: 10.1002/ppul.22976

Genes

SFTPC

Provenance

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