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Congenital central hypoventilation syndrome: diagnosis and management.

Expert review of respiratory medicine - 1 Apr 2018

Maloney Melissa A, Kun Sheila S, Keens Thomas G, Perez Iris A

Abstract excerpt

INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we...

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Homeodomain Proteins
Hypoventilation
Mutation
Respiration, Artificial
Sleep Apnea, Central

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29486608
DOI: 10.1080/17476348.2018.1445970

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