| Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. | |
| | |
MedLine Citation:
|
PMID: 20592910 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Tae-Joon Cho; Ok-Hwa Kim; Hye-Ran Lee; Sung Jin Shin; Won Joon Yoo; Woong Yang Park; Sung Sup Park; Sung Im Cho; In Ho Choi |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-16 |
Journal Detail:
|
Title: Journal of Korean medical science Volume: 25 ISSN: 1598-6357 ISO Abbreviation: J. Korean Med. Sci. Publication Date: 2010 Jul |
Date Detail:
|
Created Date: 2010-07-01 Completed Date: 2010-09-29 Revised Date: 2010-09-30 |
Medline Journal Info:
|
Nlm Unique ID: 8703518 Medline TA: J Korean Med Sci Country: Korea (South) |
Other Details:
|
Languages: eng Pagination: 1105-8 Citation Subset: IM |
Affiliation:
|
Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, Korea. tjcho@snu.ac.kr |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals Anion Transport Proteins / genetics* Asian Continental Ancestry Group / genetics Child DNA Mutational Analysis Female Genes, Recessive* Genotype Heterozygote* Humans Korea Mutation* Osteochondrodysplasias / genetics* Phenotype |
| Chemical | |
Reg. No./Substance:
|
0/Anion Transport Proteins; 0/SLC26A2 protein, human |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A case of lewis-sumner syndrome showing dramatic improvement after plasma exchange.
Next Document: The Spread of Pandemic H1N1 2009 by Age and Region and the Comparison among Monitoring Tools.