Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report

BACKGROUND: Osteopetrosis is a family of extremely rare diseases caused by failure of osteoclasts and impaired bone resorption. Among them, autosomal dominant osteopetrosis type II (ADO II), related to the chloride channel 7 (CLCN7) gene, is the most frequent form of osteopetrosis. In this study, we...

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Detalles Bibliográficos
Autores principales: Song, Xiu-Li, Peng, Li-Yuan, Wang, Dao-Wen, Wang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297392/
https://www.ncbi.nlm.nih.gov/pubmed/36051116
http://dx.doi.org/10.12998/wjcc.v10.i20.6936

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297392/
https://www.ncbi.nlm.nih.gov/pubmed/36051116
http://dx.doi.org/10.12998/wjcc.v10.i20.6936

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