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

Rachel C. Lombardo | Zendy; Aleksey Porollo | Zendy; James F. Cnota | Zendy; Robert J. Hopkin | Zendy

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

Author(s) -

Rachel C. Lombardo,

Aleksey Porollo,

James F. Cnota,

Robert J. Hopkin

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2018.34

Subject(s) - congenital central hypoventilation syndrome , mutation , supravalvular aortic stenosis , medicine , biology , genetics , disease , homeobox , cardiology , gene , stenosis , respiratory system , gene expression , hypoventilation

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 congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.

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