Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Two lethal forms of human SLC26A2-related chondrodysplasias, achondrogenesis type IB (ACG1B) and atelosteogenesis type II (AO2), are phenocopied by slc26a2<sup>-/-</sup> mice.
|
30685387 |
2019 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
|
26375458 |
2015 |
Atelosteogenesis type 2
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Multiple epiphyseal dysplasia.
|
25667404 |
2015 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB.
|
23840040 |
2013 |
Atelosteogenesis type 2
|
0.780 |
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 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Atelosteogenesis type 2
|
0.780 |
Biomarker
|
disease |
BEFREE |
SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900).
|
21155763 |
2011 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
|
21077202 |
2010 |
Atelosteogenesis type 2
|
0.780 |
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 |
Atelosteogenesis type 2
|
0.780 |
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 |
Atelosteogenesis type 2
|
0.780 |
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 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Atelosteogenesis type 2
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.
|
18925670 |
2008 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
It was suggested that DLCD might be part of the SLC26A2 spectrum of phenotypes, both because of the Finnish origin of the original family and of radiographic similarities to ACG1B and AO2.
|
18708426 |
2008 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
|
16642506 |
2006 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
Atelosteogenesis type 2
|
0.780 |
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 |
Atelosteogenesis type 2
|
0.780 |
CausalMutation
|
disease |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
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
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Atelosteogenesis type 2
|
0.780 |
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 |
Atelosteogenesis type 2
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)).
|
12966518 |
2003 |