Article
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
European journal of human genetics : EJHG - 1 Jan 2001
Witsch-Baumgartner M, Ciara E, Löffler J, Menzel H J, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann G F, Fitzky B U, Mundy H, Clayton P, Kelley R I, Krajewska-Walasek M, Utermann G
Abstract excerpt
Smith-Lemli-Opitz syndrome/RSH (SLOS) is a multiple congenital anomaly syndrome caused by mutations in the gene for Delta7-sterol reductase (DHCR7) which catalyses the last step in the biosynthesis of cholesterol. SLOS is among the common recessive disorders in Europeans but almost absent in most other populations. More than 40 mutations in the DHCR7 gene some of which are frequent have been described in SLOS...
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