A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

Author:

Ding Can1ORCID,Beetz Rolf2,Rittner Gabriele1,Bartsch Oliver1

Affiliation:

1. Institute of Human GeneticsUniversity Medical Centre of the Johannes Gutenberg University Mainz Germany

2. Pediatric Nephrology Unit of the Children's HospitalUniversity Medical Centre of the Johannes Gutenberg University Mainz Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: Molecular basis of a mild clinical phenotype;Ala Y.;Journal of the American Society of Nephrology,1998

2. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

3. Report of 33 novel AVPR2 mutations and analysis of 117 families with X‐linked nephrogenic diabetes insipidus;Arthus M. F.;Journal of the American Society of Nephrology,2000

4. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant)

5. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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