Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná

• Главные авторы: Déborah Rossane Santana Costa de-Souza (Автор), Franciele Bona Verzeletti (Автор), Mara Lúcia Schmitz Ferreira Santos (Автор), Josiane Souza (Автор)
• Формат: ‌
• Опубликовано: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Предметы: article
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Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rar...