Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability

• Päätekijät: Sajjad Karim (Tekijä), Ibtessam Ramzi Hussein (Tekijä), Hans-Juergen Schulten (Tekijä), Saad Alsaedi (Tekijä), Zeenat Mirza (Tekijä), Mohammed Al-Qahtani (Tekijä), Adeel Chaudhary (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: MDPI AG, 2023-03-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Chromosomal imbalance is implicated in developmental delay (DD), congenital malformations (CM), and intellectual disability (ID), and, thus, precise identification of copy number variations (CNVs) is essential. We therefore aimed to investigate the genetic heterogeneity in Saudi children with DD/CM/...