Disease: Hypocalciuric hypercalcemia- familial- type 3
- Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2
- Cell Surface Calcium-Sensing Receptor Heterodimers: Mutant Gene Dosage Affects Ca<sup>2+</sup> Sensing but Not G Protein Interaction
- Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations
- Cinacalcet reverses short QT interval in Familial Hypocalciuric Hypercalcemia type 1
- Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report
- Excluding familial hypocalciuric hypercalcaemia before surgery for primary hyperparathyroidism - a practical evaluation of urinary calcium using a retrospective cohort design
- Familial hypocalciuric hypercalcaemia type 1 caused by a novel heterozygous missense variant in the CaSR gene, p(His41Arg): two case reports
- Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia
- GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia
- Identification of AP2S1 mutation and effects of low calcium formula in an infant with hypercalcemia and hypercalciuria
- Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report
- Is routine 24-hour urine calcium measurement useful during the evaluation of primary hyperparathyroidism?
- Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling
- Misleading localization by <sup>18</sup>F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report
- Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
- Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3
- Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia
- Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review
- Rare diseases caused by abnormal calcium sensing and signalling
- Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3