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 37:468-70 (2005)
DOI:10.1038/ng1548

Kantaputra PN, Dejkhamron P, Tongsima S, Ngamphiw C, Intachai W, Ngiwsara L, Sawangareetrakul P, Svasti J, Olsen B, Cairns JRK, Bumroongkit K

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.

Arch Oral Biol 119:104918 (2020)
DOI:10.1016/j.archoralbio.2020.104918