Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype –phenotype correlations

Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes co...

Source: Molecular Cytogenetics - June 11, 2023 Category: Molecular Biology Authors: Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li and Ying Yang Tags: Case Report Source Type: research