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Article

Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing.

Molecular genetics and metabolism - 1 Mar 2018

Nafisinia Michael, Menezes Minal Juliet, Gold Wendy Anne, Riley Lisa, Hatch Joshua, Cardinal John, Coman David, Christodoulou John

Abstract excerpt

In this study, we report a paediatric patient with a lethal phenotype of respiratory distress, failure to thrive, pancreatic insufficiency, liver dysfunction, hypertrophic cardiomyopathy, bone marrow suppression, humoral and cellular immune deficiency. To identify the genetic basis of this unusual clinical phenotype and potentially make available the option of future prenatal testing, whole exome sequencing (WES)...

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Source

Identifiers

PMID: 29398271
DOI: 10.1016/j.ymgme.2018.01.007

Genes

NOX4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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