Article
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype.
Minerva pediatrica - 1 Feb 2013
De Clemente V, Vitiello G, Imperati F, Romano A, Parente I, Rosa M, Pascarella A, Parenti G, Del Giudice E
Abstract excerpt
AIM: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by an inborn error of cholesterol biosynthesis. The incidence is around 1:20000-1:70000. SLOS phenotype is very broad: severe phenotypes show exitus in perinatal period while milder phenotypes only show behavioral and learning problems. The purpose of this study is to further contribute to the delineation of a...
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