EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
This is the first Chinese MED-4 family attributed to SLC26A2 mutations, and these results show that these novel compound heterozygous mutations in SLC26A2 contribute to MED-4.
|
29724173 |
2018 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
|
26375458 |
2015 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
|
20525296 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
|
21077202 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
|
20592910 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
|
20525296 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
|
20592910 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
|
16642506 |
2006 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Among these, achondrogenesis 1B, atelosteogenesis type II, diastrophic dysplasia, and autosomal recessive multiple epiphyseal dysplasia are caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2).
|
15316973 |
2004 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
|
15316973 |
2004 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
CausalMutation
|
disease |
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
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
|
12966518 |
2003 |