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

• मुख्य लेखकों: Taifeng Zhou (लेखक), Yongqian Wang (लेखक), Hang Zhou (लेखक), Zhiheng Liao (लेखक), Bo Gao (लेखक), Deying Su (लेखक), Shuhui Zheng (लेखक), Caixia Xu (लेखक), Peiqiang Su (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...