×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
Biomarker
disease
BEFREE
We report a patient with a mild case of SLOS , highlighting the importance of recognizing subtle anomalies of the genitourinary system, associated with mild dysmorphic features and mild intellectual disability in establishing the diagnosis of mild forms of SLOS .
26969503
2016
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.
23918729
2013
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
22438180
2012
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Mutational spectrum of Smith-Lemli-Opitz syndrome.
23042628
2012
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
23293579
2012
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Smith-Lemli-Opitz syndrome.
21777499
2011
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
18285838
2008
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
16906538
2006
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.
16761297
2006
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
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
0.110
CausalMutation
disease
CLINVAR
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
15286151
2004
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
11562938
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Mutations in the human DHCR7 gene.
11241839
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
10677299
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
The Smith-Lemli-Opitz syndrome.
10807690
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
9024557
1997
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
0.110
CausalMutation
disease
CLINVAR
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
8259166
1994