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Article

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.

Annals of the New York Academy of Sciences - 8 Jun 1996

Superti-Furga A, Hästbacka J, Rossi A, van der Harten J J, Wilcox W R, Cohn D H, Rimoin D L, Steinmann B, Lander E S, Gitzelmann R

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Share to Anion Transport Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8702127
DOI: 10.1111/j.1749-6632.1996.tb56259.x

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A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.PMID 8702127Read ↗

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.Semantic proximity Read ↗

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.Semantic proximity Read ↗

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.Semantic proximity Read ↗

A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia.Semantic proximity Read ↗

Skeletal Dysplasias Caused by Sulfation Defects.Semantic proximity Read ↗

A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia.Semantic proximity Read ↗

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.Semantic proximity Read ↗

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The genetic basis of the osteochondrodysplasias.Semantic proximity Read ↗

Homozygosity for a DTDST mutation in a child with multiple epiphyseal dysplasia.Semantic proximity Read ↗

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.Semantic proximity Read ↗

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.Semantic proximity Read ↗

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