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Precise cause of Smith-Lemli-Opitz syndrome found

BMJ 1998; 317 doi: (Published 05 September 1998) Cite this as: BMJ 1998;317:620
  1. Tony Sheldon
  1. Utrecht

    Researchers at Amsterdam's Academic Medical Center claim to have found the precise cause of Smith-Lemli-Opitz (SLO) syndrome, which affects between one in 20 000 and one in 40 000 babies, often resulting in multiple congenital abnormalities.

    Results published in the latest issue of the American Journal of Human Genetics (1998;63:329-38) show that SLO syndrome is caused by mutations in the gene coding of enzyme 7 dehydrocholesterol reductase (7-DHCR), which stimulates the biosynthesis of cholesterol, lacking in all patients with the syndrome.

    Researchers were able to identify …

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