Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report

BACKGROUND: Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts. Approximately, 80% of autosomal dominant osteopetrosis type II (ADO-II) patients were usually affected by heterozygous dominant mutations in the chloride volt...

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Detalles Bibliográficos
Autores principales: Gong, Hong-Ping, Ren, Yan, Zha, Pan-Pan, Zhang, Wen-Yan, Zhang, Jin, Zhang, Zhi-Wen, Wang, Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923847/
https://www.ncbi.nlm.nih.gov/pubmed/36793634
http://dx.doi.org/10.12998/wjcc.v11.i3.700

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9923847/
https://www.ncbi.nlm.nih.gov/pubmed/36793634
http://dx.doi.org/10.12998/wjcc.v11.i3.700

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