Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan, B. [et al]
Baple, Emma L.
Crosby, Andrew H.
JournalGenetics in medicine : official journal of the American College of Medical Genetics
RightsArchived with thanks to Genetics in medicine : official journal of the American College of Medical Genetics
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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.