rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.
|
23918729 |
2013 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
|
22438180 |
2012 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
|
23293579 |
2012 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of Smith-Lemli-Opitz syndrome.
|
23042628 |
2012 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome.
|
21777499 |
2011 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
|
18285838 |
2008 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
|
16906538 |
2006 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.
|
16761297 |
2006 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
|
15464432 |
2005 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
|
15286151 |
2004 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the human DHCR7 gene.
|
11241839 |
2001 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.
|
11562938 |
2001 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The Smith-Lemli-Opitz syndrome.
|
10807690 |
2000 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
|
9024557 |
1997 |
rs1331331095
|
|
Multiple congenital anomalies
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.
|
8259166 |
1994 |