PMID 16642506 2006 A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
PMID 20219950 2010 Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
PMID 21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
PMID 10465113 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
PMID 8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
PMID 10482955 1999 Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
rs104893915 in
SLC26A2 gene and
Atelosteogenesis type 2
PMID 16642506 2006 A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
PMID 21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
PMID 8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
PMID 10465113 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
PMID 20219950 2010 Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
PMID 10482955 1999 Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
PMID 9342225 1997 Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
rs104893915 in
SLC26A2 gene and
Diastrophic dysplasia
PMID 24598000 2015 SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
PMID 8931695 1996 Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
PMID 9342225 1997 Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
PMID 10465113 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
PMID 21155763 2011 Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
PMID 11565064 2001 A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
PMID 27065010 2016 Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
PMID 11303514 2001 Sulphate transporter gene mutations in apparently isolated club foot.
PMID 8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
PMID 20219950 2010 Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
PMID 12525546 2003 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
PMID 10482955 1999 Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
PMID 21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
PMID 15316973 2004 Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.
PMID 16642506 2006 A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
rs104893915 in
SLC26A2 gene and
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
PMID 11303514 2001 Sulphate transporter gene mutations in apparently isolated club foot.
PMID 8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
PMID 11448940 2001 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
PMID 10482955 1999 Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
PMID 12525546 2003 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
PMID 11565064 2001 A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
PMID 16642506 2006 A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.
PMID 12966518 2003 Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
PMID 10465113 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
PMID 9342225 1997 Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
PMID 21922596 2012 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.
PMID 21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
PMID 20219950 2010 Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
rs104893915 in
SLC26A2 gene and
Movement Disorders
PMID 8571951 1996 Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
PMID 11241838 2001 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
PMID 10465113 1999 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
PMID 12525546 2003 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
PMID 21077202 2010 Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
rs104893915 in
SLC26A2 gene and
Osteochondrodysplasias
PMID 15294877 2004 Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
PMID 21155763 2011 Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
PMID 20219950 2010 Regulated transport of sulfate and oxalate by SLC26A2/DTDST.