Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
Journal of Korean Medical Science
; : 1105-1108, 2010.
Article
在 En
| WPRIM
| ID: wpr-155849
Responsible library:
WPRO
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.
Key words
全文:
1
索引:
WPRIM
主要主题:
Osteochondrodysplasias
/
Phenotype
/
DNA Mutational Analysis
/
Anion Transport Proteins
/
Asian People
/
Genes, Recessive
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Genotype
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Heterozygote
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Korea
/
Mutation
限制:
Animals
/
Female
/
Humans
国家/地区名称主题:
Asia
语言:
En
期刊:
Journal of Korean Medical Science
年:
2010
类型:
Article