Ontology highlight
ABSTRACT:
SUBMITTER: Zhou T
PROVIDER: S-EPMC5934830 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Zhou Taifeng T Wang Yongqian Y Zhou Hang H Liao Zhiheng Z Gao Bo B Su Deying D Zheng Shuhui S Xu Caixia C Su Peiqiang P
BMC medical genetics 20180503 1
<h4>Background</h4>Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple epiphyseal dysplasia-4 (MED-4). In the present study, we identified novel compound heterozygous mutations in the SLC26A2 gene in a Chinese family with two affected sibs with MED-4.<h4>Case prese ...[more]