Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation
β Scribed by Angenita F. Lieburg; Marian A. J. Verdijk; Frans Schoute; Marjolijn J. L. Ligtenberg; Bernard A. Oost; Franz Waldhauser; Maria Dobner; Leo A. H. Monnens; Nine V. A. M. Knoers
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 719 KB
- Volume
- 96
- Category
- Article
- ISSN
- 0340-6717
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Nephrogenic diabetes insipidus (NDI) is associated with germline mutations in two genes: vasopressin receptor type 2 (V2(R)) in X-linked NDI, and the water channel aquaporin-2, in autosomal-recessive disease. Genetic heterogeneity is further emphasized by reports of phenotypically abnormal individua
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