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oai:repisalud.isciii.es:20.500.12105/140292025-03-12T09:52:05Zcom_20.500.12105_5571com_20.500.12105_2404com_20.500.12105_2403col_20.500.12105_5711

00925njm 22002777a 4500 dc Arroyo Carrera, I author 2007-10 The Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital anomaly/mental retardation pattern caused by an inborn error of cholesterol metabolism. Deficient cholesterol synthesis is caused by inherited mutations of 7-dehydrocholesterol reductase gene, that catalyzes the final step of the pathway: the conversion of 7-dehydrocholesterol to cholesterol. To date, more than 125 different mutations have been identified and more than 750 patients have been reported with an extremely broad clinical spectrum. This paper describes two patients with a neonatal diagnosis and reviews the syndrome with special insights into genetics, pathogenesis, diagnosis, prenatal included, and treatment Boletín del ECEMC: Rev Dismor Epidemiol 2007; V (nº 6): 2-11 0210–3893 Boletín del ECEMC: Revista de Dismorfología y Epidemiología http://hdl.handle.net/20.500.12105/14029 Síndrome de Smith-Lemli-Opitz