ESCO2
MIM.609353 8p21.1
Pathology
Roberts syndrome (MIM.268300)
SC phocomelia (SC pseudothalidomide syndrome) (MIM.269000)
References
Schule B, Oviedo A, Johnston K, Pai S, Francke U. Related Articles, Links
Free in PMC Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am J Hum Genet. 2005 Dec;77(6):1117-28. PMID: #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#