Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort

The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of ch...

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Bibliographic Details

Published in:	Diagnostics
Main Authors:	Ioana Streață, Alexandru Caramizaru, Anca-Lelia Riza, Simona Șerban-Sosoi, Andrei Pîrvu, Monica-Laura Cara, Mihai-Gabriel Cucu, Amelia Mihaela Dobrescu, Ro-NMCA-ID Group, CExBR Pediatric Neurology Obregia Group, CExBR Pediatric Neurology “V. Gomoiu” Hospital Group, Elena-Silvia Shelby, Adriana Albeanu, Florin Burada, Mihai Ioana
Format:	Article
Language:	English
Published:	MDPI AG 2022-12-01
Subjects:	intellectual disability global developmental delay microdeletion/microduplication CNV chromosome microarray analysis
Online Access:	https://www.mdpi.com/2075-4418/12/12/3137