A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)
✍ Scribed by P Rump; RC Niessen; KT Verbruggen; OF Brouwer; M de Raad; R Hordijk
- Book ID
- 110889054
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 700 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0009-9163
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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
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the