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

• Egile Nagusiak: Déborah Rossane Santana Costa de-Souza (Egilea), Franciele Bona Verzeletti (Egilea), Mara Lúcia Schmitz Ferreira Santos (Egilea), Josiane Souza (Egilea)
• Formatua: Liburua
• Argitaratua: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...