|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
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 |
|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
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 |
|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
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 |
|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
|
Achondrogenesis, type IB (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
|
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 |
|
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 |
|
Achondrogenesis, type IB (disorder)
|
|
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 |
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 (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |