×
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
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
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
CausalMutation
CLINVAR
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
26969503 2016
×
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
CausalMutation
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
CausalMutation
CLINVAR
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
15952211 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Smith-Lemli-Opitz syndrome among Arabs.
21696385 2012
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.
12270273 2002
×
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
CausalMutation
CLINVAR
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
12070263 2002
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
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
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
Smith-Lemli-Opitz syndrome.
21777499 2011
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.
22929031 2013
×
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
CausalMutation
CLINVAR
We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene.
10677299 2000
×
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
CausalMutation
CLINVAR
We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria.
11427181 2001