Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p120 | (1) | ICCBH2019

Mutational and phenotypic spectra in 137 Russian patients with inherited forms of rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasiliy , Tiulpakov Anatoly

Background: Inherited forms of rickets are metabolic bone diseases developing as a result of inadequate mineralization of a growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Diverse phenotypic presentation and aetiology of these disorders pose difficulties for the diagnosis and management.Objective and hypotheses: The aim of this study was to perform molecular diagnostics and clinically characterize 137 patients with here...