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

Authors
Cho, TJ; Kim, OH; Lee, HR; Shin, SJ; Yoo, WJ; Park, WY; Park, SS; Cho, SI; Choi, IH
Citation
Journal of Korean medical science, 25(7):1105-1108, 2010
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
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.
MeSH terms
AnimalsAnion Transport Proteins/*geneticsAsian Continental Ancestry Group/geneticsChildDNA Mutational AnalysisFemale*Genes, RecessiveGenotype*HeterozygoteHumansKorea*MutationOsteochondrodysplasias/*geneticsPhenotype
DOI
10.3346/jkms.2010.25.7.1105
PMID
20592910
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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