載入...
A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism
SUMMARY: Familial hypocalciuric hypercalcaemia (FHH) is a dominantly inherited, lifelong benign disorder characterised by asymptomatic hypercalcaemia, relative hypocalciuria and variable parathyroid hormone levels. It is caused by loss-of-function pathogenic variants in the calcium-sensing receptor...
Na minha lista:
| 發表在: | Endocrinol Diabetes Metab Case Rep |
|---|---|
| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Bioscientifica Ltd
2020
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7576638/ https://ncbi.nlm.nih.gov/pubmed/33434173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0084 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|