Variable clinical outcome of ABCA3 deficiency in two siblings

Surendran Thavagnanam, Ernest Cutz, David Manson, Lawrence M. Nogee, Sharon D. Dell

Research output: Contribution to journalArticle

Abstract

This 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.

Original languageEnglish (US)
Pages (from-to)1035-1038
Number of pages4
JournalPediatric pulmonology
Volume48
Issue number10
DOIs
StatePublished - Oct 2013

Keywords

  • ABCA3
  • pediatric
  • respiratory

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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