## Background: We have recently identified a mutation in the uromodulin gene in a large family affected with hyperuricemia, gout, and renal failure. the purpose of this investigation is to provide a comprehensive characterization of the clinical findings of this syndrome in family members who had a
✦ LIBER ✦
Childhood course of renal insufficiency in a family with a uromodulin gene mutation
✍ Scribed by Péter Schäffer; Éva Gombos; Krisztina Meichelbeck; András Kiss; P. Suzanne Hart; Anthony J. Bleyer
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 302 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0931-041X
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## Abstract Noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, facial dysmorphism, short and/or webbed neck, heart defects, and cryptorchidism in males. The gene responsible for the disorder (__PTPN11__) was recently identified, and explains 30–50% of the cases clinica