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Vitamin D-dependent rickets, type 2B

Vitamin D-dependent rickets type 2B is characterized by bone deformations typical of vitamin D deficiency despite of hight levels of serum calcitriol (1,25-hydroxy vitamin D). The disease is not caused by loss-of-function mutations in the vitamin D receptor gene. Hypothetical mutations interfering vitamin D receptor DNA binding are accused. The RXRA gene may be a likely candidate.

Systematic

Hereditary Rickets
Hypophosphatasia
Hypophosphatemic bone and kindney disease
Vitamin D hydroxylation-deficient rickets type 1A
Vitamin D hydroxylation-deficient rickets type 1B
Vitamin D-dependent rickets, type 2A
Vitamin D-dependent rickets, type 2B
RXRA

References:

1.

Benner JD et al. (1990) Septo-optic dysplasia in two siblings.

external link
2.

OMIM.ORG article

Omim 607426 external link
Update: Aug. 14, 2020
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