Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion by Vega Hugo, Waisfisz Quinten, Gordillo Miriam, Sakai Norio, Yanagihara Itaru, Yamada Minoru, van Gosliga Djoke, Kayserili Hülya, Xu Chengzhe, Ozono Keiichi, Jabs Ethylin Wang, Inui Koji, Joenje Hans in Nature genetics (2005).

[PMID: 15821733] PubMed

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