Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Previously Misdiagnosed with Primary Hyperparathyroidism.
Bryan K WardKirsten A LoffellJohn P WalshWarwick D HoweSuzanne J BrownScott G WilsonPublished in: Case reports in endocrinology (2024)
variants prior to assigning causality to FHH.