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Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation

Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis (MCA), performed by DNA microarray technology...

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Detalles Bibliográficos
Autores principales: Cardos, Georgeta, Gica, Nicolae, Gica, Corina, Panaitescu, Anca Maria, Predescu, Mariana, Peltecu, Gheorghe, Nedelea, Florina Mihaela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9689011/
https://www.ncbi.nlm.nih.gov/pubmed/36428950
http://dx.doi.org/10.3390/diagnostics12112887