X-Linked Hypophosphatemic Rickets: A Pediatric Case Report

• Главные авторы: Isabel Rodrigues Leal Moitinho de Almeida (Автор), Ana Catarina Barbosa Rodrigues (Автор), Ana Patrícia Costa-Reis (Автор), Maria Rosário Arriaga Câmara Stone (Автор)
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• Опубликовано: Publicações Ciência e Vida, 2022-10-01T00:00:00Z.
• Предметы: article
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X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets. Short stature, limb deformities, dental anomalies, craniosynostosis...