Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in theSLC26A2gene

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Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in theSLC26A2gene

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im April 2013 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована у квітні 2013

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Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

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Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

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Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

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Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

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Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

@en

Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

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P1476

Recessive MED with auricular s ...... pr/Thr512Lys in theSLC26A2gene

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P2093

Jaakko Ignatius

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Johanna Syvänen

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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

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

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

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

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

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

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

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

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

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

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1491-1494

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scholarly article

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10.1002/AJMG.A.35872

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English

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161

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Outi Mäkitie

Matti Hero

Ilkka J Helenius

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2013-04-23T00:00:00Z

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23613459

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