A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia

• Main Authors: Jiashen Shao (Author), Sen Zhao (Author), Zihui Yan (Author), Lianlei Wang (Author), Yuanqiang Zhang (Author), Mao Lin (Author), Chenxi Yu (Author), Shengru Wang (Author), Yuchen Niu (Author), Xiaoxin Li (Author), Guixing Qiu (Author), Jianguo Zhang (Author), Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) (Author), Zhihong Wu (Author), Nan Wu (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations. Methods We recruited a...