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Article

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Respiratory physiology & neurobiology - 15 Nov 2005

Weese-Mayer Debra E, Berry-Kravis Elizabeth M, Marazita Mary L

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period with a phenotype including alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung disease and later tumors of neural crest origin. Study of genes related to the autonomic dysregulation and the embryologic origin of the neural crest has led to identification of...

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Identifiers

PMID: 16054879
DOI: 10.1016/j.resp.2005.06.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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