Marie Helene Schernthaner-Reiter and colleagues report a unique case of partial X-linked nephrogenic diabetes insipidus (NDI) with an AVPR2 splice site mutation (AVPR2 c.276A>G). They showed that patients with diabetes insipidus of unknown etiology may harbor splice site mutations that are initially underestimated in their pathogenicity on sequence analysis.
Schernthaner-Reiter, Marie Helene et al. European Journal of Pediatrics.
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Johns Hopkins Medicine, All Children's Hospital