Article

Identification and Characterization of a Novel clcn7 Variant Associated With Osteopetrosis

2020-09-23

Abstract excerpt

Osteopetrosis is a group of rare inheritable disorders of the skeleton characterized by increased bone density. The disease is remarkably heterogeneous in clinical presentation and often misdiagnosed. Therefore, genetic testing and molecular pathogenicity analysis are essential for precise diagnosis and new targets for preventive pharmacotherapy. Mutations in the CLCN7 gene give rise to the complete spectrum of os...

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Literature Corpus work: 8444e8b7-9788-5e8c-9bc5-9e318c89c45a
DOI: 10.20944/preprints202009.0543.v1

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