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

• Үндсэн зохиолчид: Déborah Rossane Santana Costa de-Souza (Зохиогч), Franciele Bona Verzeletti (Зохиогч), Mara Lúcia Schmitz Ferreira Santos (Зохиогч), Josiane Souza (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...