×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
22382802 2012
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
11078571 2000
×
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
Mutational spectrum of Smith-Lemli-Opitz syndrome.
23042628 2012
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
24500076 2014
×
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
CausalMutation
CLINVAR
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
27401223 2016
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Biochemical variants of Smith-Lemli-Opitz syndrome.
10405455 1999
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
10814720 2000
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.
10710236 2000
×
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
The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH /SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis.
10995508 2000
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
22211794 2012
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
10896306 2000
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase .
9683613 1998
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
17497248 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
11453964 2001
×
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
To further delineate the physical spectrum of the mild form of Smith-Lemli-Opitz syndrome , especially with regard to genotype-phenotype correlation, we describe 5 Polish patients with mild phenotype (one with novel mutation in DHCR7 gene and four published before) and analyze 18 other cases from the literature.
18249054 2008
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
16044199 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Mutations in the human DHCR7 gene.
11241839 2001
×
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
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
CausalMutation
CLINVAR
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
15521979 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