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

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...

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Detalhes bibliográficos

Principais autores:	Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhihong Wu, Nan Wu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2020-05-01
coleção:	BMC Medical Genetics
Assuntos:	Cartilage oligomeric matrix protein (COMP) Multiple epiphyseal dysplasia Femoral head necrosis Whole-exome sequencing
Acesso em linha:	http://link.springer.com/article/10.1186/s12881-020-01040-y
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