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

• मुख्य लेखकों: Sajjad Karim (लेखक), Ibtessam Ramzi Hussein (लेखक), Hans-Juergen Schulten (लेखक), Saad Alsaedi (लेखक), Zeenat Mirza (लेखक), Mohammed Al-Qahtani (लेखक), Adeel Chaudhary (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2023-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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/...