Ontology highlight
ABSTRACT:
SUBMITTER: Cho TJ
PROVIDER: S-EPMC2890895 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Journal of Korean medical science 20100616 7
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 mutati ...[more]