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

• Main Authors: Taifeng Zhou (Author), Yongqian Wang (Author), Hang Zhou (Author), Zhiheng Liao (Author), Bo Gao (Author), Deying Su (Author), Shuhui Zheng (Author), Caixia Xu (Author), Peiqiang Su (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 mu...