Diastrophic dysplasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Osteochondrodysplasias
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Atelosteogenesis type 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Diastrophic dysplasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Atelosteogenesis type 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Atelosteogenesis type 2
|
|
0.700 |
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 |
Diastrophic dysplasia
|
|
0.700 |
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 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.700 |
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 |
Osteochondrodysplasias
|
|
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 |
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 |
Diastrophic dysplasia
|
|
0.700 |
CausalMutation
|
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 |
CausalMutation
|
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 |
CausalMutation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
Osteochondrodysplasias
|
|
0.700 |
CausalMutation
|
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
Achondrogenesis, type IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
Diastrophic dysplasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
Atelosteogenesis type 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |