×
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
×
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
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
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
CausalMutation
CLINVAR
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
28349652
2017
×
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
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
CausalMutation
CLINVAR
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
24824134
2015
×
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
GeneticVariation
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
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
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.
23918729
2013
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
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
CausalMutation
CLINVAR
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
22975760
2013
×
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
Mutational spectrum of Smith-Lemli-Opitz syndrome.
23042628
2012
×
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
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
CausalMutation
CLINVAR
Smith-Lemli-Opitz syndrome among Arabs.
21696385
2012
×
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
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
22226660
2012
×
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
Smith-Lemli-Opitz syndrome among Arabs.
21696385
2012
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
23293579
2012
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
22226660
2012