A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Hiba Risheg(Greenwood Genetic Center), Michael J. Friez(Greenwood Genetic Center), Andreas Peiffer(University of Utah), Robin D. Clark(Loma Linda University Children's Hospital), Julie R. Jones(Greenwood Genetic Center), John M. Graham(Cedars-Sinai Medical Center), Roger E. Stevenson(Piedmont Technical College), Charles E. Schwartz(Greenwood Genetic Center), John M. Opitz(University of Utah), John B. Moeschler(Dartmouth–Hitchcock Medical Center), Melanie May(Greenwood Genetic Center), R. Curtis Rogers(Greenwood Genetic Center), Sumy Joseph(Greenwood Genetic Center)
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