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hrp0092p2-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of 168 Russian Patients with Hypophosphatemic Rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasilij , Kenis Vladimir , Petrov Michael , Korkin Anatoly , Gofman Fedor , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...

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hrp0084p2-217 | Bone | ESPE2015

The Spectrum of Molecular Defects in 64 Patients with Hypophosphatemic Rickets Identified by Targeted Next-Generation Sequencing

Kulikova Kristina , Kolodkina Anna , Vasilyev Evgeny , Petrov Vasily , Gofman Fedor , Horkin Anatoly , Kenis Vladimir , Petrov Michael , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. To date more than 10 genes are associated with HR, and a comprehensive molecular diagnosis in these disorders is technically difficult to perform.Objective and hypotheses: To assess the value of targeted next-generation sequencing (NGS) used for molecular analysis of candidate genes of HR.Method: 64 pa...

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ESPE Abstracts

Clinical and Genetic Characteristics of 168 Russian Patients with Hypophosphatemic Rickets

The Spectrum of Molecular Defects in 64 Patients with Hypophosphatemic Rickets Identified by Targeted Next-Generation Sequencing

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