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Article

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Pediatric pulmonology - 1 Jan 2008

Gronli Jerome O, Santucci Barbara A, Leurgans Sue E, Berry-Kravis Elizabeth M, Weese-Mayer Debra E

Abstract excerpt

OBJECTIVE: Children with Congenital Central Hypoventilation Syndrome (CCHS) have cardiovascular symptoms consistent with the autonomic nervous system dysregulation/dysfunction (ANSD) phenotype. We hypothesized that children with CCHS would have a relationship between PHOX2B genotype and two clinically applicable cardiovascular measures of ANSD: duration of longest r-r interval and longest corrected QT interval...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18041756
DOI: 10.1002/ppul.20744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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