EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |
Diastrophic dysplasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |
Atelosteogenesis type 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
Atelosteogenesis type 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
Diastrophic dysplasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Diastrophic dysplasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Osteochondrodysplasias
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Atelosteogenesis type 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
BEFREE |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
CausalMutation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Diastrophic dysplasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Diastrophic dysplasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Atelosteogenesis type 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
Atelosteogenesis type 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
GeneticVariation
|
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.810 |
CausalMutation
|
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |