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
Background. Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH) are common causes of hypercalcaemia. Patients are mostly asymptomatic in the case of FHH and often so in the case of PHPT. In addition, biochemical parameters show considerable overlap, making differential...
Asıl Yazarlar: | , , , , , |
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Materyal Türü: | Makale |
Dil: | English |
Baskı/Yayın Bilgisi: |
Hindawi Limited
2024-01-01
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Seri Bilgileri: | Case Reports in Endocrinology |
Online Erişim: | http://dx.doi.org/10.1155/2024/6652801 |