Article

International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B Variant

2025-11-13

Abstract excerpt

<h4>Introduction: </h4> CCHS is a rare disorder caused by PHOX2B gene variants. While CCHS hallmarks are hypoventilation and respiratory control dysfunction necessitating lifelong artificial ventilatory support, affected individuals also experience widespread, but less studied, autonomic nervous system (ANS) dysregulation. PHOX2B variants may be divided into moderate and severe groups based upon molecular and i...

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Literature Corpus work: 935e1be0-d20f-5cbf-95d0-8df639e6ace4
DOI: 10.22541/au.176306411.14920070/v1

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International Congenital Central Hypoventilation Syndrome (CCHS) Registry: Analysis of Patient-Reported Symptoms by PHOX2B VariantDOI 10.22541/au.176306411.14920070/v1Read

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