Submission Details

Submitter:

Classification:
Strong
GENCC:100002
Gene:
Disease:
vitamin D hydroxylation-deficient rickets, type 1B
Rickets due to defect in vitamin D 25-hydroxylation deficiency
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
10/11/2022
PubMed IDs:
15128933 22855339 24019477 245738 250936 25942481 276994 282630 28548312 30777056 33715104
Assertion Criteria:
Submitter Submitted Date:
11/30/2023

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