𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Behavior of 10 patients with FG syndrome
✍ John M. Graham Jr.; Jeannie Visootsak; Elisabeth Dykens; Lillie Huddleston; Robi 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 1 views

## 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

Mutations in MED12 Cause X-Linked Ohdo S
✍ Vulto-van Silfhout, Anneke T.; de Vries, Bert B.A.; van Bon, Bregje W.M.; Hoisch 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 538 KB
Novel 7-DHCR mutation in a child with Sm
✍ Patrono, C.; Rizzo, C.; Tessa, A.; Giannotti, A.; Borrelli, P.; Carrozzo, R.; Pi 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

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