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KMID : 0191120100250071105
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Journal of Korean Medical Science
2010 Volume.25 No. 7 p.1105 ~ p.1108
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Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
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Cho Tae-Joon
Kim Ok-Hwa
Lee Hye-Ran
Shin Sung-Jin
Yoo Won-Joon
Park Woong-Yang
Park Sung-Sup
Cho Sung-Im
Choi In-Ho
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Abstract
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Multiple epiphyseal dysplasia is caused by heterogenous 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.
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KEYWORD
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Osteochondrodysplasias, Diastrophic Dysplasia Sulfate Transporter
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