Condition: Osteochondrodysplasias


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.

PMID 8528239 1996 Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

PMID 12525546 2003 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

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 9637425 1998 Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.

PMID 10482955 1999 Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).

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 20592910 2010 Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.