|
rs80338859
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300 - 1:3,937).
|
20556518 |
2010 |
|
rs80338859
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
|
10896306 |
2000 |
|
rs80338859
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
|
27513191 |
2017 |
|
rs80338859
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
|
rs80338859
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs80338859
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.850 |
CausalMutation
|
CLINVAR |
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
|
15521979 |
2004 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
The analysis included 20 Spanish and 12 Italian SLOS patients and revealed very different mutation spectra in these patients compared to previously described patients from Czechoslovakia, Germany, Poland, and the UK and implicated p.Thr93Met on the J haplotype as the most frequent Mediterranean founder mutation.
|
15776424 |
2005 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).
|
10995508 |
2000 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
|
10602371 |
1999 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
|
15670717 |
2005 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
|
22211794 |
2012 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
rs80338853
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.840 |
CausalMutation
|
CLINVAR |
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
|
14981719 |
2004 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Mutational spectrum of Smith-Lemli-Opitz syndrome.
|
23042628 |
2012 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
|
16983147 |
2006 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
|
10602371 |
1999 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
|
15952211 |
2005 |
|
rs80338860
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
|
11175299 |
2001 |
|
rs61757582
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).
|
9653161 |
1998 |
|
rs61757582
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
|
15954111 |
2005 |
|
rs61757582
|
|
Smith-Lemli-Opitz Syndrome
|
A |
0.810 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
|
22438180 |
2012 |