Articles with "pax2 variants" as a keyword



Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.799562

Abstract: Background: PAX2 is a nuclear transcription factor gene that is highly conserved among species. Variants within PAX2 could result in optic nerve colobomas and kidney hypoplasia. However, little clinical and genetic information is currently available… read more here.

Keywords: single center; kidney; chinese population; pax2 variants ... See more keywords