The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
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; Journal Of Medical Genetics, 2007, vol. 44, issue 7, p 472, ISSN 14686244. ISBN 14686244.

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