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Article

Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the <i>PHOX2B</i> gene

16 Sept 2008

Abstract excerpt

AIM: to describe a family with later onset congenital central hypoventilation syndrome (LO-CCHS) and heterozygosity for a 24-polyalanine repeat expansion mutation in the PHOX2B gene, rendered phenotypically apparent with exposure to anesthetics. CASE SUMMARY: An otherwise healthy 2.75-year-old boy presented with alveolar hypoventilation after adenoidectomy and tonsillectomy for obstructive sleep apnea, requiring...

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Identifiers

PMID: 18798833
DOI: 10.1111/j.1651-2227.2008.01039.x

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