DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
✍ Scribed by E Ciara; MJM Nowaczyk; M Witsch-Baumgartner; E Malunowicz; E Popowska; A Jezela-Stanek; M Piotrowicz; JS Waye; G Utermann; M Krajewska-Walasek
- Book ID
- 110887962
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 103 KB
- Volume
- 66
- Category
- Article
- ISSN
- 0009-9163
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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
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mu