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Article

Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.

Clinics in chest medicine - 1 Sept 2014

Rand Casey M, Carroll Michael S, Weese-Mayer Debra E

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with...

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Identifiers

PMID: 25156769
DOI: 10.1016/j.ccm.2014.06.010

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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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