Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene

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 heterozy...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: The Korean Academy of Medical Sciences 2010
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2890895/
https://ncbi.nlm.nih.gov/pubmed/20592910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.7.1105
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