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The expanding phenotypes of cohesinopathies: one ring to rule them all!

13 Sept 2019

Abstract excerpt

Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The best characterized cohesinopathy is Cornelia de Lange syndrome (CdLS), in which intellectual and growth retardations...

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PMID: 31516082
DOI: 10.1080/15384101.2019.1658476

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