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Article

Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.

Genes - 22 Oct 2020

Bug Dmitrii S, Barkhatov Ildar M, Gudozhnikova Yana V, Tishkov Artem V, Zhulin Igor B, Petukhova Natalia V

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...

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Identifiers

PMID: 33105733
DOI: 10.3390/genes11111242
PMCID: PMC7690398

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.PMID 33105733Read ↗

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