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

• Main Authors: Déborah Rossane Santana Costa de-Souza (Author), Franciele Bona Verzeletti (Author), Mara Lúcia Schmitz Ferreira Santos (Author), Josiane Souza (Author)
• Format: Knjiga
• Izdano: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Teme: article
• Online dostop: 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...