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Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets

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Observational analysis reveals genetic characteristics in hypophosphatemic rickets patients, indicating potential management strategies.

Patients with hypophosphatemic rickets had median onset ages of 1.5 years, indicating early presentation.
Variants in suspected genes were evaluated according to ACMG criteria to establish genetic diagnosis.
The study involved 32 children diagnosed with hypophosphatemic rickets to assess clinical features.
Findings may enable earlier diagnosis and personalized management strategies for hypophosphatemic rickets.

Öngen et al. (2025) studied this question.

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