A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome by Risheg Hiba, Graham John M, Clark Robin D, Rogers R Curtis, Opitz John M, Moeschler John B, Peiffer Andreas P, May Melanie, Joseph Sumy M, Jones Julie R, Stevenson Roger E, Schwartz Charles E, Friez Michael J in Nature genetics (2007).

[PMID: 17334363] PubMed

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