Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

INTRODUCTION: The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV or monogenic variants for patients with a normal...

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Detalles Bibliográficos
Autores principales: Fonova, E. A., Kashevarova, A. A., Lopatkina, M. E., Sivtsev, A. A., Zarubin, A. A., Demeneva, V. V., Seitova, G. N., Minaycheva, L. I., Salyukova, O. A., Fadyushina, S. V., Petrova, V. V., Belyaeva, E. O., 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/PMC10479214/
http://dx.doi.org/10.1192/j.eurpsy.2023.1879

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