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
In conclusion, we report three cases of FHH1 with different heterozygous variant sites in the CaSR gene. This study has expanded the spectrum of variants. It is of great significance for the genetic screening, diagnosis, counseling, and research of hypercalcemia-related genes and become a key resource for enhancing clinicians' understanding of FHH1.
Authors
- Tingting Hu (ORCID: https://orcid.org/0000-0002-7304-9433)
- Shuai Wang (ORCID: https://orcid.org/0000-0001-7028-8503)
- Dandan Luo (ORCID: https://orcid.org/0009-0003-6177-873X)
- Dongmei Zheng
- Xinli Zhou (ORCID: https://orcid.org/0000-0001-5430-8594)
- Yiping Cheng (ORCID: https://orcid.org/0000-0003-0142-7578)
- Ruxuan Zhang
Institutions
- Shandong University (CN)
- Shandong Provincial Hospital (CN)
- Ministry of Education (TH)
- Shandong First Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-09
- DOI
- https://doi.org/10.3389/fgene.2025.1570141
- Primary Topic
- Parathyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China