Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

@article{Wassif2001BiochemicalPA,
  title={Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.},
  author={Christopher A Wassif and P Zhu and Lisa Kratz and Patrycja A. Krakowiak and Kevin P. Battaile and Forrest F. Weight and Alexander Grinberg and Robert D Steiner and Ngozi A Nwokoro and Richard I Kelley and Randall R. Stewart and Forbes D Porter},
  journal={Human molecular genetics},
  year={2001},
  volume={10 6},
  pages={555-64}
}
The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autosomal recessive syndrome characterized by multiple malformations, a distinct behavioral phenotype with autistic features and mental retardation. RSH/SLOS is due to an inborn error of cholesterol biosynthesis caused by mutation of the 3 beta-hydroxysterol Delta(7)-reductase gene. To further our understanding of the developmental and neurological processes that underlie the pathophysiology of this disorder, we have developed a mouse… CONTINUE READING

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