A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Risheg H; Graham JM Jr; Clark RD; Rogers RC; Opitz JM; Moeschler JB; Peiffer AP; May M; Joseph SM; Jones JR; Stevenson RE; Schwartz CE; Friez MJ; Nature Genetics, 2007, vol. 39, issue 4, p 451, ISSN 10614036. ISBN 10614036.

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