Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

Intellectual Disability (ID) is a neurodevelopmental disorder that affects approximately 3% of children and adolescents worldwide. It is a heterogeneous and multifactorial clinical condition. Several methodologies have been used to identify the genetic causes of ID and in recent years new generation...

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Detalles Bibliográficos
Autores principales: Leite, Ana Julia da Cunha, Pinto, Irene Plaza, Leijsten, Nico, Ruiterkamp-Versteeg, Martina, Pfundt, Rolph, de Leeuw, Nicole, da Cruz, Aparecido Divino, Minasi, Lysa Bernardes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989190/
https://www.ncbi.nlm.nih.gov/pubmed/35390071
http://dx.doi.org/10.1371/journal.pone.0266493

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989190/
https://www.ncbi.nlm.nih.gov/pubmed/35390071
http://dx.doi.org/10.1371/journal.pone.0266493

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