Article

Extended clinical phenotype of late-onset congenital central hypoventilation syndrome in children with PHOX2B mutations

2024-10-17

Abstract excerpt

<h4>Objective: </h4> This study aimed to delineate the clinical and genetic features of late-onset congenital central hypoventilation syndrome (LO-CCHS) in four children. <h4>Methods: </h4>: Clinical data from four children with LO-CCHS, including presentations, genetic testing, and follow-up results, were collected and analyzed at the Department of Respiratory Medicine at Beijing Children’s Hospital, China, from...

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Literature Corpus work: 413c0ad5-4791-5473-a814-1d2fac1d7954
DOI: 10.22541/au.172918131.18650725/v1

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