Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis

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...

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Detalles Bibliográficos
Autores principales: Bug, Dmitrii S., Barkhatov, Ildar M., Gudozhnikova, Yana V., Tishkov, Artem V., Zhulin, Igor B., Petukhova, Natalia V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690398/
https://www.ncbi.nlm.nih.gov/pubmed/33105733
http://dx.doi.org/10.3390/genes11111242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7690398/
https://www.ncbi.nlm.nih.gov/pubmed/33105733
http://dx.doi.org/10.3390/genes11111242

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