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Article

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

25 Jan 2017

Abstract excerpt

BACKGROUND: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. METHODS: We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies...

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PMID: 28121514
DOI: 10.1056/nejmoa1609009

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