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

ABSTRACT: Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.

SUBMITTER: Cho TJ

PROVIDER: S-EPMC2890895 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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

Cho Tae-Joon TJ Kim Ok-Hwa OH Lee Hye-Ran HR Shin Sung Jin SJ Yoo Won Joon WJ Park Woong Yang WY Park Sung Sup SS Cho Sung Im SI Choi In Ho IH

Journal of Korean medical science 20100616 7

Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutati ...[more]

PMID: 20592910

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