Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Identifieur interne : 001B79 ( Istex/Curation ); précédent : 001B78; suivant : 001B80Survival of an infant with homozygous surfactant protein C (SFTPC) mutation
Auteurs : Zeynep Ar Kan-Ayy Ld Z [Turquie] ; Sule Caglayan-Sozmen [Turquie] ; Sakine Is K [Turquie] ; Robin Deterding ; Megan K. Dishop ; Remy Couderc [France] ; Ralph Epaud [France] ; Malek Louha [France] ; Nevin Uzuner [Turquie]Source :
- Pediatric Pulmonology [ 8755-6863 ] ; 2014-03.
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 inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.
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DOI: 10.1002/ppul.22976
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Robin Deterding<affiliation><mods:affiliation>Department of Pediatric Pulmonology, The Children's Hospital Colorado, University of Colorado, Colorado, Aurora</mods:affiliation><wicri:noCountry code="subField">Aurora</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Pathology, The Children's Hospital Colorado, University of Colorado, Colorado, Aurora</mods:affiliation><wicri:noCountry code="subField">Aurora</wicri:noCountry></affiliation>Le document en format XML
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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 inheritence that is discussed in this report. Pediatr Pulmonol. 2014; 49:E112–E115. © 2013 Wiley Periodicals, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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