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

• Автори: Diana Miclea (Автор), Sergiu Osan (Автор), Simona Bucerzan (Автор), Delia Stefan (Автор), Radu Popp (Автор), Monica Mager (Автор), Maria Puiu (Автор), Cristian Zimbru (Автор), Adela Chirita-Emandi (Автор), Camelia Alkhzouz (Автор)
• Формат: Книга
• Опубліковано: BMC, 2022-12-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...