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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

✍ Scribed 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

Book ID: 109919530
Publisher: Nature Publishing Group
Year: 2007
Tongue: English
Weight: 163 KB
Volume: 39
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1992

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## Abstract Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1–18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451–453] identified