The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz, Charles E.; Tarpey, Patrick S.; Lubs, Herbert A.; Verloes, Alain; May, Melanie M.; Risheg, Hiba; Friez, Michael J.; Futreal, P Andrew; Edkins, Sarah; Teague, Jon; Briault, Sylvain; Skinner, Cindy; Bauer-Carlin, Astrid; Simensen, Richard J.; Joseph, Sumy M.; Jones, Julie R.; Gecz, Josef; Stratton, Michael R.; Raymond, F. Lucy; Stevenson, Roger E.; Journal of Medical Genetics, 2007, vol. 44, issue 7, p 472, ISSN 00222593. ISBN 14686244.

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