Article
A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass.
Bone research - 16 Oct 2024
Li Shanshan, Shao Rui, Li Shufa, Zhao Jiao, Deng Qi, Li Ping, Wei Zhanying, Xu Shuqin, Chen Lin, Li Baojie, Zou Weiguo, Zhang Zhenlin
Abstract excerpt
Cellular communication network factor 2 (CCN2) is a secreted extracellular matrix-associated protein, and its aberrantly increased expression has been implicated in a diversity of diseases involving pathological processes of fibrosis, chronic inflammation, or tissue injury, which has promoted the evaluation of CCN2 as therapeutic targets for multiple disorders. However, human phenotypes associated with CCN2...
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