Smith-Lemli-Opitz Syndrome

Known as: Syndromes, SLO, RSH-SLO Syndrome, Syndrome, RSH 
A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol… (More)
National Institutes of Health

Papers overview

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2010
2010
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7… (More)
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Highly Cited
2006
Highly Cited
2006
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected… (More)
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2006
2006
The Smith-Lemli-Opitz syndrome (SLOS) is an often lethal birth defect resulting from mutations in the gene responsible for the… (More)
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Highly Cited
2001
Highly Cited
2001
The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication… (More)
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Highly Cited
2001
Highly Cited
2001
The RSH/Smith--Lemli--Opitz syndrome (RSH/SLOS) is a human autosomal recessive syndrome characterized by multiple malformations… (More)
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Review
2000
Review
2000
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery… (More)
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2000
2000
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Delta(7)-dehydrocholesterol reductase, which catalyzes the final… (More)
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Highly Cited
1998
Highly Cited
1998
Smith-Lemli-Opitz syndrome is a frequently occurring autosomal recessive developmental disorder characterized by facial… (More)
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Highly Cited
1998
Highly Cited
1998
The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syndrome" [MIM 270400]) is an autosomal recessive multiple malformation… (More)
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Highly Cited
1996
Highly Cited
1996
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome associated with increased levels of… (More)
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