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Article

ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth

1 Jan 2019

Abstract excerpt

Human CLCN7 encodes voltage-gated chloride channel 7 (ClC-7); mutations of CLCN7 lead to osteopetrosis which is characterized by increased bone mass and impaired osteoclast function. In our previous clinical practice, we noticed that osteopetrosis patients with CLCN7 mutations had some special deformities in craniofacial morphology and tooth dysplasia. It is unclear whether these phenotypes are the typical...

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PMID: 30867839
DOI: 10.7150/thno.29761

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