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Pediatric pulmonology · Oct 2013
Review Case ReportsVariable clinical outcome of ABCA3 deficiency in two siblings.
- Surendran Thavagnanam, Ernest Cutz, David Manson, Lawrence M Nogee, and Sharon D Dell.
- Division of Respiratory Medicine, The Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada; University of Toronto, Toronto, Canada.
- Pediatr. Pulmonol. 2013 Oct 1;48(10):1035-8.
AbstractThis case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9-year-old child whose sibling died of the same disease in infancy.© 2013 Wiley Periodicals, Inc.
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