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References

These sources were used to develop the Genetics Home Reference condition summary on Lujan syndrome.

Gene Review: MED12-Related Disorders
Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Muñoz F. Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. Am J Med Genet A. 2006 Dec 15;140(24):2807-11. Review. PubMed citation
Lujan JE, Carlin ME, Lubs HA. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet. 1984 Jan;17(1):311-22. PubMed citation
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. J Med Genet. 2007 Jul;44(7):472-7. Epub 2007 Mar 16. PubMed citation
Van Buggenhout G, Fryns JP. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis. 2006 Jul 10;1:26. Review. PubMed citation

Reviewed: December 2012

Published: May 20, 2013