Please use this identifier to cite or link to this item:
Scopus Web of ScienceĀ® Altmetric
Full metadata record
DC FieldValueLanguage
dc.contributor.authorAntic, N.en
dc.contributor.authorMalow, B.en
dc.contributor.authorLange, N.en
dc.contributor.authorMcEvoy, R.en
dc.contributor.authorOlson, A.en
dc.contributor.authorTurkington, P.en
dc.contributor.authorWindisch, W.en
dc.contributor.authorSamuels, M.en
dc.contributor.authorStevens, C.en
dc.contributor.authorBerry-Kravis, E.en
dc.contributor.authorWeese-Mayer, D.en
dc.identifier.citationAmerican Journal of Respiratory and Critical Care Medicine, 2006; 174(8):923-927en
dc.description.abstractCongenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.en
dc.publisherAmerican Thoracic Societyen
dc.subjectCongenital central hypoventilation syndrome; PHOX2B geneen
dc.titlePHOX2B mutation-confirmed congenital central hypoventilation syndromeen
dc.typeJournal articleen
pubs.library.collectionMolecular and Biomedical Science publicationsen
dc.identifier.orcidMcEvoy, R. [0000-0002-5759-0094]en
Appears in Collections:Molecular and Biomedical Science publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.