Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

@article{Nezarati2002NovelMI,
  title={Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.},
  author={Marjan M Nezarati and Judith Loeffler and Grace Yoon and L Maclaren and Ernest Fung and Floyd F. Snyder and Gerd Utermann and Gail E. Graham},
  journal={American journal of medical genetics},
  year={2002},
  volume={110 2},
  pages={103-8}
}
The Smith-Lemli-Opitz syndrome (SLOS), or RSH syndrome, is a well-characterized multiple congenital anomalies/mental retardation syndrome. The phenotype has been redefined to include mildly affected individuals with minor anomalies and developmental delay, and severe malformations with pre- and perinatal mortality. The condition is due to the deficient activity of the enzyme 7-dehydrocholesterol (7-DHC) reductase [Shefer et al., 1995: J Clin Invest 96:1779-1785], and the gene has been mapped to… CONTINUE READING

Similar Papers

Loading similar papers…