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

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

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...

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Bibliographic Details
Main Authors: Déborah Rossane Santana Costa de-Souza, Franciele Bona Verzeletti, Mara Lúcia Schmitz Ferreira Santos, Josiane Souza
Format: Article
Language:English
Published: Sociedade Brasileira de Pediatria 2022-12-01
Series:Residência Pediátrica
Subjects:
rare diseases
genetic profile
clinical diagnosis
whole exome sequencing polymorphism
single nucleotide karyotype
Online Access:https://residenciapediatrica.com.br/detalhes/1269/perfil%20genetico-clinico%20dos%20pacientes%20atendidos%20no%20ambulatorio%20de%20doencas%20raras%20de%20um%20hospital%20pediatrico%20de%20curitiba-%20parana

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https://residenciapediatrica.com.br/detalhes/1269/perfil%20genetico-clinico%20dos%20pacientes%20atendidos%20no%20ambulatorio%20de%20doencas%20raras%20de%20um%20hospital%20pediatrico%20de%20curitiba-%20parana

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