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

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 four-ge...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Shao, Jiashen, Zhao, Sen, Yan, Zihui, Wang, Lianlei, Zhang, Yuanqiang, Lin, Mao, Yu, Chenxi, Wang, Shengru, Niu, Yuchen, Li, Xiaoxin, Qiu, Guixing, Zhang, Jianguo, Wu, Zhihong, Wu, Nan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2020
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7251693/
https://ncbi.nlm.nih.gov/pubmed/32460719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01040-y
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