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Article

Late-onset central hypoventilation syndrome: a family genetic study

30 Jan 2007

Abstract excerpt

Congenital central hypoventilation syndrome is a rare disorder characterised by chronic alveolar hypoventilation, which becomes more pronounced during sleep and may be associated with neurocristopathies, such as Hirchsprung's disease. A mutation in the PHOX2B gene has recently been identified. In a family of both parents and five offspring, detailed clinical assessment, pulmonary function testing, overnight sleep...

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PMID: 17264323
DOI: 10.1183/09031936.00001606

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