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Objective
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominantly inherited disorder with overlapping biochemistry profile with primary hyperparathyroidism (PHPT), making the correct diagnosis a challenge. The objective of the study was to evaluate the results of the clinical work‐up of a large group of hypercalcemic individuals.
Design
Cross‐sectional study.
Patients
Patients undergoing...
Autosomal dominant hypocalcaemia (ADH) is caused by activating variants in the calcium‐sensing receptor (CASR) gene, but detailed information on the paediatric phenotype is limited. The current paper presents a case of severe ADH and systematically reviews the literature on ADH in children.
ConclusionWe found that the severity of clinical neurological symptoms was inversely related to serum calcium...
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