Autor: Zheng, R., Du, X., Yan, J., Huang, G., Guo, Z., Li, W., Que, H., Wen, Y., Yan, F., Chen, D., Dai, L., Shi, Y., Chen, W., Xu, W.
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Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction
Background Primary cilia are essential for skeletal development by coordinating key signalling pathways in osteoblasts and chondrocytes. While pathogenic variants in approximately 40 genes have been linked to skeletal ciliopathies, additional causativ…
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Biallelic variants in DNAH10 are associated with skeletal developmental abnormalities and ciliary dysfunction
Background Primary cilia are essential for skeletal development by coordinating key signalling pathways in osteoblasts and chondrocytes. While pathogenic variants in approximately 40 genes have been linked to skeletal ciliopathies, additional causativ…