Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

@article{Mueller2003NormalCA,
  title={Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.},
  author={Catherine L. Mueller and Sangeeta P. Patel and M Janie Irons and Kevin M. Antshel and Gerald Salen and G. Stephen Tint and Carolyn A Bay},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={123A 1},
  pages={100-6}
}
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis. It is caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol Delta7-reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis, usually resulting in cholesterol deficiency. We report a 3.5-year-old girl who has cognition in the low average range and normal behavior, but in whom molecular studies identified two missense mutations in DHCR7: V326L and F284L. She… CONTINUE READING

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Normal IQ is possible in Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part A • 2017
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Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics • 2012
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The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote.

American journal of medical genetics. Part C, Seminars in medical genetics • 2012

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