A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
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Schernthaner-Reiter MH, et al. Among authors: nella aa.
Eur J Pediatr. 2016 May;175(5):727-33. doi: 10.1007/s00431-015-2684-4. Epub 2016 Jan 21.
Eur J Pediatr. 2016.
PMID: 26795631
Free PMC article.