Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Abstract Background Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population, the genetic etiology being often involved. The aim of this study was to determine the clinically relevant copy number variants i...

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Bibliographic Details
Main Authors: Diana Miclea, Sergiu Osan, Simona Bucerzan, Delia Stefan, Radu Popp, Monica Mager, Maria Puiu, Cristian Zimbru, Adela Chirita-Emandi, Camelia Alkhzouz
Format: Article
Language:English
Published: BMC 2022-12-01
Series:Italian Journal of Pediatrics
Subjects:
Global developmental delay
Intellectual disability
Chromosomal microarray analysis
Copy number variants
Etiology
Online Access:https://doi.org/10.1186/s13052-022-01397-1

Internet

https://doi.org/10.1186/s13052-022-01397-1

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