| 单词 |
hypophosphatemic nephrolithiasis/osteoporosis type 2 |
| 释义 |
hypophosphatemic nephrolithiasis/osteoporosis type 2 hypophosphatemic nephrolithiasis/osteoporosis type 2 A condition (OMIM:612287) characterised by idiopathic renal phosphate loss leading to kidney stone formation and hypophosphataemic osteoporosis.
Molecular pathology
Caused by defects of SLC9A3R1, which encodes a scaffold protein that acts as a sodium/hydrogen-exchanger regulatory cofactor. |
| 随便看 |
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