Vitamin D-dependent rickets type 1A
Vitamin D-dependent rickets type 1 is a rare autosomal recessive disorder caused by mutation of the CYP27B1 gene, that further leads to a decrease in the activity of 1A-hydroxylase and vitamin D metabolic disorder. The disease manifests itself by means of rickets-like changes, alike to the symptoms...
Main Authors: | , , , |
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Format: | Article |
Language: | Russian |
Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2022-09-01
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Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
Subjects: | |
Online Access: | https://www.ped-perinatology.ru/jour/article/view/1686 |