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. 2005 May;37(5):468-70.
doi: 10.1038/ng1548. Epub 2005 Apr 10.

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Hugo Vega  1 , Quinten Waisfisz, Miriam Gordillo, Norio Sakai, Itaru Yanagihara, Minoru Yamada, Djoke van Gosliga, Hülya Kayserili, Chengzhe Xu, Keiichi Ozono, Ethylin Wang Jabs, Koji Inui, Hans Joenje
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Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

Hugo Vega et al. Nat Genet. 2005 May.

Abstract

Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.

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