Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
The case with bilateral renal agenesis presented a novel combination of a null allele and a putative C-terminus missense mutation in the DHCR7 gene CONCLUSIONS: In view of the discrepancy between the prevalence of SLOS among newborns and the carrier frequency of a heterozygous DHCR7 gene mutation, the syndrome-specific internal malformation pattern may be helpful not to miss SLOS diagnosis in fetuses at prenatal ultrasound and fetal autopsy.
|
31840946 |
2020 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol.
|
26998835 |
2016 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Impaired DHCR7 function is associated with a spectrum of congenital malformations, intellectual impairment, epileptiform activity and autism spectrum disorder.
|
26685159 |
2016 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The Smith-Lemli-Opitz syndrome (SLOS [MIM 270400]) is an autosomal recessive malformation syndrome that shows a great variability with regard to severity.
|
22929031 |
2013 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive malformation syndrome characterized by a large spectrum of morphogenic and congenital anomalies.
|
23042628 |
2012 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol.
|
21990131 |
2011 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene.
|
20635399 |
2010 |
Congenital Abnormality
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of 7-dehydrocholesterol reductase as a consequence of mutations of the DHCR7 gene.
|
19365639 |
2010 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7).
|
18285838 |
2008 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome caused by deficiency of 7-dehydrocholesterol reductase catalysing the last step of cholesterol biosynthesis.
|
17497248 |
2007 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Many developmental malformations attributed to SLOS occur in tissues and organs where Hh signaling is required for development, but the precise role of DHCR7 deficiency in this disease remains murky.
|
16687448 |
2006 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive, malformation syndrome caused by mutations in the 3beta-hydroxysterol delta7-reductase gene (DHCR7).
|
15896653 |
2005 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Smith-Lemli-Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3beta-hydroxysterol-Delta(7)-reductase (DHCR7).
|
11503168 |
2001 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-Hünermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg "moth-eaten" skeletal dysplasia and the CHILD syndrome.
|
10439210 |
1999 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The Smith-Lemli-Opitz syndrome (SLOS; also known as "RSH syndrome" [MIM 270400]) is an autosomal recessive multiple malformation syndrome due to a defect in cholesterol biosynthesis.
|
9634533 |
1998 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possible, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems.
|
8989473 |
1996 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
The discovery by G. Stephen Tint and his co-workers of the apparent 7-DHC reductase deficiency makes the RSH (Smith-Lemli-Opitz) syndrome the first true metabolic malformation syndrome.
|
7632194 |
1994 |