Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

BACKGROUND: Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim of this study is to observe the frequency of recurrent copy number variations (CNVs) in patients diagnosed with GDD/ID, using MLPA tec...

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Detalles Bibliográficos
Autores principales: Miclea, Diana, Szucs, Adriana, Mirea, Andreea, Stefan, Delia-Maria, Nazarie, Florina, Bucerzan, Simona, Lazea, Cecilia, Grama, Alina, Pop, Tudor Lucian, Farcas, Marius, Zaharie, Gabriela, Matyas, Melinda, Mager, Monica, Vintan, Mihaela, Popp, Radu, Alkhzouz, Camelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378908/
https://www.ncbi.nlm.nih.gov/pubmed/34429637
http://dx.doi.org/10.2147/IJGM.S320033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378908/
https://www.ncbi.nlm.nih.gov/pubmed/34429637
http://dx.doi.org/10.2147/IJGM.S320033

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