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Article

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.

BMC medical genetics - 3 May 2018

Zhou Taifeng, Wang Yongqian, Zhou Hang, Liao Zhiheng, Gao Bo, Su Deying, Zheng Shuhui, Xu Caixia, Su Peiqiang

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 29724173
DOI: 10.1186/s12881-018-0596-7
PMCID: PMC5934830

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