(Q28206087)

3

0 references

Stephen Robertson

object named as

Stephen Robertson

4

0 references

Outi Mäkitie

object named as

Outi Mäkitie

1

0 references

Ravi Savarirayan

2

object named as

Ravi Savarirayan

0 references

author name string

Miki Susic

5

0 references

William G Cole

American Journal of Medical Genetics Part A

7

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language of work or name

English

0 references

publication date

15 October 2003

0 references

published in

1 reference

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

PubMed

volume

122A

0 references

issue

3

0 references

page(s)

187-92

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

Double-layered manubrium sterni in young children with diastrophic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

Sulphate transporter gene mutations in apparently isolated club foot

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

COL9A3: A third locus for multiple epiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20282