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Article

Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome.

American journal of medical genetics - 1 May 2001

Weese-Mayer D E, Silvestri J M, Huffman A D, Smok-Pearsall S M, Kowal M H, Maher B S, Cooper M E, Marazita M L

Abstract excerpt

Children with idiopathic congenital central hypoventilation syndrome (CCHS) have a complex phenotype consistent with an imbalance of the autonomic nervous system (ANS). Since CCHS may be genetic in origin, we hypothesized that relatives of individuals with CCHS may exhibit symptoms of ANS dysfunction (ANSD), albeit in a milder form. We tested this hypothesis by assessing aspects of ANS function in relatives of...

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Identifiers

PMID: 11343310
DOI: 10.1002/ajmg.1249

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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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