Marie Helene Schernthaner-Reiter David Adams Giampaolo Trivellin Mary Scott Ramnitz Margarita Raygada Gretchen Golas Fabio R Faucz Ola Nilsson Aikaterini A Nella Kavitha Dileepan Maya Lodish Paul Lee Cynthia Tifft Thomas Markello William Gahl Constantine A Stratakis
10.1007/s00431-015-2684-4
Eur J Pediatr
2016 May;175(5):727-33.
arginine vasopressin receptor type 2 partial nephrogenic diabetes insipidus pathogenic splice site mutation x-linked nephrogenic diabetes insipidus
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/26795631/
Diabetes Insipidus, Nephrogenic / genetics Mutation RNA Splice Sites / genetics Receptors, Vasopressin / genetics Siblings
Diabetes Insipidus, Nephrogenic / genetics Mutation RNA Splice Sites / genetics Receptors, Vasopressin / genetics Siblings Case Reports Child DNA Mutational Analysis Diabetes Insipidus, Nephrogenic / metabolism Humans Infant Male Pedigree Receptors, Vasopressin / metabolism AVPR2 protein, human RNA Splice Sites Receptors, Vasopressin
PMC6561467
26795631
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers
2016