| 单词 |
vitamin d-dependent rickets, type 2a |
| 释义 |
vitamin D-dependent rickets, type 2A vitamin D-dependent rickets, type 2A A disorder (OMIM:277440) of vitamin D metabolism resulting in severe rickets, hypocalcaemia and secondary hyperparathyroidism. Most patients also have total alopecia.
Molecular pathology
Defects of VDR, which encodes the nuclear hormone receptor for vitamin D3, cause vitamin D-dependent rickets type 2A. |
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