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Article

A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Molecular genetics & genomic medicine - 1 Dec 2020

Pace Nikolai Paul, Pace Bardon Michael, Borg Isabella

Abstract excerpt

BACKGROUND: Mutations in the PHOX2B gene cause congenital central hypoventilation syndrome (CCHS), a rare autonomic nervous system dysfunction disorder characterized by a decreased ventilatory response to hypercapnia. Affected subjects develop alveolar hypoventilation requiring ventilatory support particularly during the non-REM phase of sleep. In more severe cases, hypoventilation may extend into wakefulness....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33047879
DOI: 10.1002/mgg3.1528
PMCID: PMC7767558

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