Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Affiliation

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA. [Email]

Abstract

Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.

Keywords

Atypical cohesinopathies,Clinical exome sequencing (CES),Cohesin pathway,STAG1,STAG2,