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FHH – PARAthyroid PEEPS

WebFeb 5, 2024 · In most of the cases, familial hypocalciuric hypercalcemia (FHH1) results from loss-of-function mutations in the calcium-sensing receptor (CaSR) gene on the long arm of chromosome 3 (over 85%). The patient presents with the milder disorder and incidentally has a mild elevation in calcium and normal or mildly elevated PTH. The patients with a ... WebOct 29, 2024 · The molecular basis, in most cases, is a loss-of-function mutation in the calcium-sensing receptor (CaSR) gene in which case the syndrome is now called FHH1. The protein product, CaSR, is a G-protein coupled receptor that predominantly signals via the G-protein subunit alpha-11 (Ga11) to regulate calcium homeostasis. parker selfridge actor

Heterozygous Mutation (Q459R) in the Calcium-Sensing Receptor …

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