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Article

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2011

Thomas Rosemary, Sanna-Cherchi Simone, Warady Bradley A, Furth Susan L, Kaskel Frederick J, Gharavi Ali G

Abstract excerpt

Malformations of the kidney and lower urinary tract are the most frequent cause of end-stage renal disease in children. Mutations in HNF1Β and PAX2 commonly cause syndromic urinary tract malformation. We searched for mutations in HNF1Β and PAX2 in North American children with renal aplasia and hypodysplasia (RHD) enrolled in the Chronic Kidney Disease in Children Cohort Study (CKiD). We identified seven mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21380624
DOI: 10.1007/s00467-011-1826-9
PMCID: PMC3257470

Genes

PAX2
RHD

Variants

Provenance

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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