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Article

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney international - 1 Jun 2014

Hwang Daw-Yang, Dworschak Gabriel C, Kohl Stefan, Saisawat Pawaree, Vivante Asaf, Hilger Alina C, Reutter Heiko M, Soliman Neveen A, Bogdanovic Radovan, Kehinde Elijah O, Tasic Velibor, Hildebrandt Friedhelm

Abstract excerpt

Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations; however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in...

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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: 24429398
DOI: 10.1038/ki.2013.508
PMCID: PMC4040148

Genes

BMP7
EYA1
GATA3
PAX2
RET
ROBO2
SALL1
SIX2
SIX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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