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

• Autori principali: Déborah Rossane Santana Costa de-Souza (Autore), Franciele Bona Verzeletti (Autore), Mara Lúcia Schmitz Ferreira Santos (Autore), Josiane Souza (Autore)
• Natura: Libro
• Pubblicazione: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...