Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p111 | (1) | ICCBH2019

Vitamin D dependent rickets type 1 caused by CYP27B1 mutation

Kim Chan Jong

Objectives: Vitamin D dependent rickets type I (VDDR-I) is an autosomal recessive disorder with impaired activation of vitamin D, caused by mutations in CYP27B1. Characteristic clinical features are hypotonia, muscle weakness, growth failure, hypocalcemic seizures in early infancy, and radiographic findings of rickets. We aimed to describe the clinical and laboratory findings in a VDDR-1 case and to report a mutation in CYP27B1.Methods and results: The p...