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

• প্রধান লেখক: Déborah Rossane Santana Costa de-Souza (লেখক), Franciele Bona Verzeletti (লেখক), Mara Lúcia Schmitz Ferreira Santos (লেখক), Josiane Souza (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...