Article

Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant

2021-07-12

Abstract excerpt

<h4>Introduction: </h4> Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening disorder characterized by a failure in physiologic autonomic control of breathing resulting in apnoea, hypoxemia, and hypoventilation episodes, associated to a large spectrum of autonomic nervous system dysfunctions. Despite this condition is most likely caused by mutations in the PHOX2B gene, other genes have bee...

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Literature Corpus work: 7d412957-fbcc-5e3e-943c-0d74f6583c2f
DOI: 10.21203/rs.3.rs-562470/v1

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