2026-06-15T14:48:21Zhttps://repisalud.isciii.es/rest/oai/requestoai: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
Repisalud
author
Arroyo Carrera, I
2022-04-18T11:29:43Z
2022-04-18T11:29:43Z
2007-10
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
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
spa
Síndrome de Smith-Lemli-Opitz
research article
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URL
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application/pdf
SíndromeSmithLemliOpitz_2007.pdf
URL
https://repisalud.isciii.es/bitstreams/bd3e9901-de66-4cb4-ab37-0765f62d214b/download
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text/plain
SíndromeSmithLemliOpitz_2007.pdf.txt