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

• 主要な著者: Déborah Rossane Santana Costa de-Souza (著者), Franciele Bona Verzeletti (著者), Mara Lúcia Schmitz Ferreira Santos (著者), Josiane Souza (著者)
• フォーマット: 図書
• 出版事項: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...