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...

Full description

Bibliographic Details
Main Authors: E. A. Potrokhova, L. S. Baleva, M. P. Safonova, A. E. Sipyagina
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2022-09-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/1686