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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Ruxuan Zhang, Tingting Hu, Shuai Wang, Yiping Cheng, Dandan Luo, Dongmei Zheng, Xinli Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
Subjects:
familial hypocalciuric hypercalcemia
primary hyperparathyroidism
calciumsensing receptor gene
heterozygous variant
parathyroid hormone
cinacalcet
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1570141/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2025.1570141/full

Similar Items