Article
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Nov 2012
Nowaczyk Małgorzata J M, Irons Mira B
Abstract excerpt
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. SLOS is inherited in an autosomal recessive pattern. It is characterized by prenatal and postnatal growth retardation, microcephaly, a variable degree of intellectual disability...
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