SMC3
MIM.606062 10q25
Pathology
SMC3 germline mutations in a mild variant of cornelia de Lange syndrome with predominant mental retardation (CDLS2) (MIM.300590)
See also
SMC1A
References
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. PMID: #17273969#