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Article

Congenital heart disease and aortic arch variants associated with mutation in PHOX2B.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

Lombardo Rachel C, Porollo Aleksey, Cnota James F, Hopkin Robert J

Abstract excerpt

PURPOSE: Congenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between...

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PMID: 29543228
DOI: 10.1038/gim.2018.34

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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