Article
Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?
The Journal of clinical endocrinology and metabolism - 1 Oct 2013
Ferrè Silvia, Bongers Ernie M H F, Sonneveld Ramon, Cornelissen Elisabeth A M, van der Vlag Johan, van Boekel Gerben A J, Wetzels Jack F M, Hoenderop Joost G J, Bindels René J M, Nijenhuis Tom
Abstract excerpt
CONTEXT: Heterozygous mutations or deletions of the transcription factor hepatocyte nuclear factor 1β (HNF1β) result in a heterogeneous syndrome characterized by renal cysts and diabetes, together with a variety of other extrarenal and renal manifestations. Interestingly, in several patients with HNF1β abnormalities, we observed early hyperparathyroidism and PTH levels that we judged inappropriately high compared...
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