A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree

• Main Authors: Lihua Yu (Author), Hongke Ding (Author), Min Liu (Author), Ling Liu (Author), Qi Zhang (Author), Jian Lu (Author), Fangfang Guo (Author), Yan Zhang (Author)
• Format: Book
• Published: BMC, 2023-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background A multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs) characterized by a wide range of clinical characteristics. Benefiting from CNV calling from WES data, WES has emerged as a more powerful and cost-effec...