Home > B. Cellular pathology > Chromosomes > sister chromatid cohesion
sister chromatid cohesion
Monday 30 April 2007
Pathology
Roberts syndrome (MIM.268300)
SC phocomelia (SC pseudothalidomide syndrome) (MIM.269000)
See also
cohesins
- SMC3
sister chromatid exchange
References
Schule, B.; Oviedo, A.; Johnston, K.; Pai, S.; Francke, U. : Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am. J. Hum. Genet. 77: 1117-1128, 2005. PubMed ID : 16380922
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May;37(5):468-70. PMID: 15821733