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Journal of Korean Medical Science ; : 1105-1108, 2010.
Article in English | WPRIM | ID: wpr-155849

ABSTRACT

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.


Subject(s)
Animals , Child , Female , Humans , Anion Transport Proteins/genetics , Asian People/genetics , DNA Mutational Analysis , Genes, Recessive , Genotype , Heterozygote , Korea , Mutation , Osteochondrodysplasias/genetics , Phenotype
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