Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases

BackgroundFamilial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder and represents a rare cause of hypercalcemia. It stems from variants in the calcium-sensing receptor gene (CaSR), G-protein subunit alpha11 gene (GNA11), or adaptor-related protein complex 2 gene (AP2S1), among wh...

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Autors principals:	Ruxuan Zhang, Tingting Hu, Shuai Wang, Yiping Cheng, Dandan Luo, Dongmei Zheng, Xinli Zhou
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2025-05-01
Col·lecció:	Frontiers in Genetics
Matèries:	familial hypocalciuric hypercalcemia primary hyperparathyroidism calciumsensing receptor gene heterozygous variant parathyroid hormone cinacalcet
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1570141/full
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