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

• Auteurs principaux: Déborah Rossane Santana Costa de-Souza (Auteur), Franciele Bona Verzeletti (Auteur), Mara Lúcia Schmitz Ferreira Santos (Auteur), Josiane Souza (Auteur)
• Format: Livre
• Publié: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...