Article

Cornelia de Lange Syndrome-associated mutations in Smc1 cause both sister chromatid cohesion and cohesion-independent defects

2018-02-10

Abstract excerpt

Cornelia de Lange Syndrome is a pervasive developmental disorder characterized by limb truncations, craniofacial abnormalities, and cognitive delays. This syndrome is a member of a class of developmental disorders referred to as cohesinopathies , which result from mutations in the genes encoding subunits or regulators of the cohesin complex. The phenotypic consequences of these mutations may reflect the critical...

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Literature Corpus work: 5fcfd09a-b11d-5ba0-881f-e5859f17a3fb
DOI: 10.1101/263418

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