- A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)
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Moon JE, Yang HY, Wee G, ParK SH, Ko CW
- KMID: 2514149
- Ann Pediatr Endocrinol Metab.
- 2021 Mar;26(1):24-30.
- doi: 10.6065/apem.2040022.011
Purpose: Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital... -
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