Vitamin D-dependent rickets type 2A is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). Also an alopecia is a common finding. The disease is caused by loss-of-function mutations in the vitamin D receptor gene.
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15. |
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16. |
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17. |
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18. |
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20. |
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22. |
Malloy PJ et al. (1989) Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. |
23. |
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26. |
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27. |
Malloy PJ et al. (1997) Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. |
28. |
Kristjansson K et al. (1993) Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. |
29. |
Fraher LJ et al. (1986) Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia. |
30. |
Hughes MR et al. (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. |
31. |
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32. |
OMIM.ORG article Omim 277440 |