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Vitamin D hydroxylation-deficient rickets type 1B

Vitamin D hydroxylation-deficient rickets type 1B is a vitamin D depentend form or rickets that is aused by deficient 25-hydroxylation of vitamin D (CYP2R1 gene).

Systematic

Hereditary Rickets
Hypophosphatasia
Hypophosphatemic bone and kindney disease
Vitamin D hydroxylation-deficient rickets type 1A
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
Vitamin D-dependent rickets, type 2B

References:

1.

Cheng JB et al. (2004) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.

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2.

Casella SJ et al. (1994) A possible genetic defect in 25-hydroxylation as a cause of rickets.

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3.

OMIM.ORG article

Omim 600081 [^]
Update: May 10, 2019
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