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De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Familial hyponatremia conditioned by the R137C mutation with constitutive activation of the vasopressin receptor.
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Low-Dose Cyclophosphamide Associated With Hyponatremia and Hepatotoxicity.
V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.