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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… 
National Institutes of Health

Related topics

Related topics

49 relations
2-3 toe cutaneous syndactyly7-Dehydrocholesterol Reductase DeficiencyAggressive behaviorAortic coarctation

Broader (2)

Congenital DisordersSyndrome

Narrower (1)

Smith-Lemli-Opitz Syndrome, Type II

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2003
2003
Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome
Smith-Lemli-Opitz (or RSH) syndrome (SLOS) is a recessive single gene disorder, with an incidence of 1 in 10,000–60,000 live… 
Review
1999
Review
1999
Photosensitivity in the Smith‐Lemli‐Opitz syndrome
Cholesterol is a fundamental component of all mammalian cells. When combined with phospholipids it provides the structure for… 
1994
1994
Diagnosis of Smith-Lemli-Opitz syndrome.
1994
1994
Diagnosis of Smith-Lemli-Opitz syndrome.
1992
1992
Smith-Lemli-Opitz syndrome: the changing phenotype with age.
In this report we present follow up data of two brothers with Smith-Lemli-Opitz syndrome. The changes with ageing are striking… 
Review
1987
Review
1987
Nosology of Smith-Lemli-Opitz syndrome.
1983
1983
INTESTINAL AGANGLIONOSIS IN THE SMITH‐LEMLI‐OPITZ SYNDROME
ABSTRACT. Two unrelated cases with clinical and autopsy findings of the Smith‐Lemli‐Opitz syndrome are described. Narrowing of… 
1975
1975
The pathological anatomy of the Smith‐Lemli‐Opitz syndrome
Two cases of the Smith‐Lemli‐Opitz syndrome are described, together with the autopsy findings. In both cases, the typical… 
1973
1973
Smith-Lemli-Opitz Syndrome in a 23-Year-Old Man
In 1964 Smith, Lemli, and Opitz 1 described a syndrome consisting of mental and physical retardation, microcephaly, and a… 
1972
1972
A Case of Smith-Lemli-Opitz Syndrome
AbstractA new case of Smith-Lemli-Opitz syndrome is added to 43 already reported in the literature. The principal development and… 
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