Por favor, use este identificador para citar o enlazar este Item:http://hdl.handle.net/20.500.12105/14029
Título
Síndrome de Smith-Lemli-Opitz
Autor(es)
Fecha de publicación
2007-10
Cita
Boletín del ECEMC: Rev Dismor Epidemiol 2007; V (nº 6): 2-11
Idioma
Español
Tipo de documento
journal article
Resumen
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
Descripción
Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMC
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