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SMC3

MIM.606062 10q25

Friday 30 November 2007

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