Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by in...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2015-04-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-58-148.pdf |