HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://www.nature.com/articles/nrneph.2014.232.pdf
Reference95 articles.
1. Madariaga, L. et al. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin. J. Am. Soc. Nephrol. 8, 1179–1187 (2013).
2. Thomas, R. et al. HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Pediatr. Nephrol. 26, 897–903 (2011).
3. Weber, S. et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J. Am. Soc. Nephrol. 17, 2864–2870 (2006).
4. Heidet, L. et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin. J. Am. Soc. Nephrol. 5, 1079–1090 (2010).
5. Bingham, C. et al. Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease. Am. J. Hum. Genet. 68, 219–224 (2001).
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