Article
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
European journal of human genetics : EJHG - 1 Dec 1999
De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo M P, Zuppaldi A, Bardaro T, Ambruzzi M A, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G
Abstract excerpt
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Delta7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most...
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