Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
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 |
Deformity
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The RSH/Smith-Lemli-Opitz syndrome (RSH/SLOS) is an autosomal recessive malformation syndrome associated with increased levels of 7-dehydro-cholesterol (7-DHC) and a defect of cholesterol biosynthesis at the level of 3 beta-hydroxy-steroid-delta7-reductase (7-DHC reductase).
|
8989473 |
1996 |
Deformity
|
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 |