Jul 2, 2024 · Familial hypocalciuric hypercalcemia (FHH) is a genetic condition that occurs as a result of mutations in the calcium-sensing receptor gene leading to decreased receptor …

Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α11, or adaptor …

Nov 1, 2021 · Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant condition caused by mutations in the calcium sensing receptor gene (CASR). FHH is characterized by …

Feb 22, 2024 · In this study we present a new mouse model for familial hypocalciuric hypercalcemia (FHH1) due to an inactivating Casr mutation and analyze to which extent the …

Familial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor (CaSR) in FHH 1 or its …

Familial hypocalciuric hypercalcaemia (FHH) is caused by pathogenic variants in the calcium sensing receptor (CASR) gene or, more rarely, other genes such as GNA11 or AP2S1. It …

Feb 11, 2022 · Familial hypocalciuric hypercalcemia (FHH), previously known as familial benign hypercalcemia, is an autosomal dominant disorder resulting from three distinct gene mutations …

Jun 25, 2024 · This topic will briefly review our understanding of the function of the CaSR in the parathyroid glands and kidneys and then describe conditions caused by mutations in this …

Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1]

Feb 22, 2024 · Familial hypocalciuric hypercalcemia type I (FHH1) is caused by heterozygous loss-of-function mutations in the CaSR gene, and is characterized by the combination of …