Condition: Atelosteogenesis type 2


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.

PMID 21077204 2010 New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

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 11448940 2001 Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.

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

PMID 18925670 2008 A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

PMID 21155763 2011 Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

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

PMID 20525296 2010 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.

PMID 12966518 2003 Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

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 26375458 2015 Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.

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

PMID 8931695 1996 Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.