Oct 2026
Genetic and functional analysis of CDH2 reveals new insights into CDH2-related disorders.
PURPOSE Pathogenic variants in CDH2 cause agenesis of the corpus callosum, cardiac, ocular, and genital syndrome (ACOGS). We aimed to define the clinical and molecular landscape of CDH2-related developmental disorders. METHODS Newly identified and previously reported families were analyzed for genotype-phenotype corr...
Linda M. Reis, Smith Ann M. Chisholm, Kailey Frank et al.
· Genetics in Medicine · 0 citations