×
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
GeneticVariation
CLINVAR
Biochemical variants of Smith-Lemli-Opitz syndrome.
10405455 1999
×
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
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
GeneticVariation
CLINVAR
Mutations in the human DHCR7 gene.
11241839 2001
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
15464432 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
22438180 2012
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
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
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
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
15805162 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
28503313 2017
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
To establish that defects in this gene cause SLOS , we sequenced cDNA clones from SLOS patients.
9634533 1998
×
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
GeneticVariation
CLINVAR
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.
28166604 2017
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22).
11175299 2001
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
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
GeneticVariation
CLINVAR
Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
19390132 2009
×
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
Mutational spectrum of Smith-Lemli-Opitz syndrome.
23042628 2012
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses.
21706511 2011
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
We report the mutation analysis and determination of residual cholesterol synthesis in 47 SLOS patients, and the effects of treatment of SLOS skin fibroblasts with simvastatin.
15896653 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.
12270273 2002