×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
15670717
2005
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
15670717
2005
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
SLOS is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (DHCR7 ; EC 1.3.1.21), which maps to chromosome 11q12-13.
17994283
2007
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS , and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS.
17441222
2007
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS , and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS.
17441222
2007
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
20052364
2010
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
20052364
2010
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.
16392899
2005
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.
15013448
2004
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
27513191
2017
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
17237122
2007
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
17237122
2007
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010.
20694756
2010
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010.
20694756
2010
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome.
18076100
2008
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Adrenal function in Smith-Lemli-Opitz syndrome.
21990131
2011
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Adrenal function in Smith-Lemli-Opitz syndrome.
21990131
2011
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.
11745994
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
17965227
2008
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
22975760
2013
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.
20014133
2010
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Better understanding of the 7DHCR gene regulation factors and of the compensatory mechanism of foeto-maternal cholesterol transfer are necessary to explain the wide clinical spectrum of the SLO syndrome .
12818773
2003
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Better understanding of the 7DHCR gene regulation factors and of the compensatory mechanism of foeto-maternal cholesterol transfer are necessary to explain the wide clinical spectrum of the SLO syndrome .
12818773
2003
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
11111101
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Biochemical variants of Smith-Lemli-Opitz syndrome.
10405455
1999