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

• Main Authors: Diana Miclea (Author), Sergiu Osan (Author), Simona Bucerzan (Author), Delia Stefan (Author), Radu Popp (Author), Monica Mager (Author), Maria Puiu (Author), Cristian Zimbru (Author), Adela Chirita-Emandi (Author), Camelia Alkhzouz (Author)
• Format: Book
• Published: BMC, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...