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

Abstract 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 s...

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Bibliografiska uppgifter

Huvudupphov:	Nikolai Paul Pace, Michael Pace Bardon, Isabella Borg
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Wiley 2020-12-01
Serie:	Molecular Genetics & Genomic Medicine
Ämnen:	Congenital Central Hypoventilation Syndrome Hirschsprung disease PHOX2B gene
Länkar:	https://doi.org/10.1002/mgg3.1528
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