A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism

Marios Papadakis, Natalie Meurer, Theodora Margariti, Anke Meyer, Norbert Weyerbrock, Cornelia Dotzenrath

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OBJECTIVE: The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene …