Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability

INTRODUCTION: aCGH determines pathogenic copy number variations (CNVs) in about 10% of patients with intellectual disability (ID). In another 20% of patients, probably pathogenic CNVs or variants with uncertain clinical significance are detected. It may be variants that do not fully explain the pati...

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Detalles Bibliográficos
Autores principales: Kashevarova, A. A., Belyaeva, E. O., Fonova, E. A., Lopatkina, M. E., Vasilyeva, O. Y., Fedotov, D. A., Zarubin, A. A., Sivtsev, A. A., Demeneva, V. V., Salyukova, O. A., Petrova, V. V., Fadiushina, S. V., Minaycheva, L. I., Seitova, G. N., Nazarenko, L. P., Lebedev, I. N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2023
Materias:
Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478954/
http://dx.doi.org/10.1192/j.eurpsy.2023.1878

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478954/
http://dx.doi.org/10.1192/j.eurpsy.2023.1878

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