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

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 in patien...

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Detalles Bibliográficos
Autores principales: Miclea, Diana, Osan, Sergiu, Bucerzan, Simona, Stefan, Delia, Popp, Radu, Mager, Monica, Puiu, Maria, Zimbru, Cristian, Chirita-Emandi, Adela, Alkhzouz, Camelia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801529/
https://www.ncbi.nlm.nih.gov/pubmed/36585697
http://dx.doi.org/10.1186/s13052-022-01397-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801529/
https://www.ncbi.nlm.nih.gov/pubmed/36585697
http://dx.doi.org/10.1186/s13052-022-01397-1

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