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References

These sources were used to develop the Genetics Home Reference condition summary on Coffin-Lowry syndrome.

Gene Review: Coffin-Lowry Syndrome
Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet. 2002 Oct;39(10):705-13. Review. PubMed citation
Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. J Pediatr Orthop. 2007 Jan-Feb;27(1):85-9. PubMed citation
Hunter AG. Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet. 2002 Sep 1;111(4):345-55. Review. PubMed citation
Jacquot S, Zeniou M, Touraine R, Hanauer A. X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1). Eur J Hum Genet. 2002 Jan;10(1):2-5. PubMed citation
Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM. The movement disorders of Coffin-Lowry syndrome. Brain Dev. 2005 Mar;27(2):108-13. PubMed citation

Reviewed: January 2008

Published: May 20, 2013