rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
|
27065010 |
2016 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
|
24598000 |
2015 |
rs104893915
|
|
|
0.750 |
GeneticVariation |
BEFREE |
This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the SLC26A2, a Finnish founder mutation (c.-26 + 2T>C), and R279W.
|
23840040 |
2013 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
|
21077202 |
2010 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
|
16642506 |
2006 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
|
15316973 |
2004 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
rs104893915
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The most frequent mutation, 862C>T (R279W), is a mild mutation giving the rMED phenotype when homozygous and mostly DTD when compounded; occurrence at a CpG dinucleotide and its panethnic distribution suggest independent recurrence.
|
11241838 |
2001 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
|
11565064 |
2001 |
rs104893915
|
|
|
0.750 |
GeneticVariation |
BEFREE |
A homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella.
|
11565064 |
2001 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Sulphate transporter gene mutations in apparently isolated club foot.
|
11303514 |
2001 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
|
10465113 |
1999 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
|
10482955 |
1999 |
rs104893915
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter.
|
9342225 |
1997 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
|
9342225 |
1997 |
rs104893915
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions.
|
8931695 |
1996 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
|
8571951 |
1996 |
rs104893915
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
|
8931695 |
1996 |