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

• Prif Awduron: Déborah Rossane Santana Costa de-Souza (Awdur), Franciele Bona Verzeletti (Awdur), Mara Lúcia Schmitz Ferreira Santos (Awdur), Josiane Souza (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...