A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene
Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Society of Turaz Bilim
2022-12-01
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| Series: | Medicine Science |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=106073 |