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Article

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Pediatric pulmonology - 1 Jun 2009

Weese-Mayer Debra E, Rand Casey M, Berry-Kravis Elizabeth M, Jennings Larry J, Loghmanee Darius A, Patwari Pallavi P, Ceccherini Isabella

Abstract excerpt

The modern story of CCHS began in 1970 with the first description by Mellins et al., came most visibly to the public eye with the ATS Statement in 1999, and continues with increasingly fast paced advances in genetics. Affected individuals have diffuse autonomic nervous system dysregulation (ANSD). The paired-like homeobox gene PHOX2B is the disease-defining gene for CCHS; a mutation in the PHOX2B gene is...

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PMID: 19422034
DOI: 10.1002/ppul.21045

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

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