PhenomeGene — Human Disease Gene Website SeriesHNF1B

Publications

Verhave JC et al.Hepatocyte Nuclear factor 1B-Associated Kidney Disease: More than Renal Cysts and Diabetes.JASN. 2016;27(2):345-353.  PMID: 26319241.

Van der Made CI et al. Hypomagnesemia as first clinical manifestation of ADTKD-HNF1B: a case series and literature review. Am J Nephrol. 2015;42:85–90.  PMID: 26340261.

Clissold RL et al.HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol. 2015;11(2):102-112.  PMID: 25536396.

Faguer S et al.The HNF1B score is a simple tool to select for HNF1B gene analysis. Kidney Int. 2014;86(5):1007-15.  PMID: 24897035.

Clissold RL et al.Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int. 2016;90(1):203-211.  PMID: 27234567.