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A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report

BACKGROUND: Osteopetrosis is a rare inherited bone disorder affected individual by osteoclast disfunction and increasing bone density. Surgery was taken for histological examination of the specimen and evidence of malignancy was not found. Finally, X-ray and gene detection lead to the diagnosis. CAS...

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Detalles Bibliográficos
Autores principales: Xu, You, Yu, Xiaoyan, Huang, Mengjie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8162000/
https://www.ncbi.nlm.nih.gov/pubmed/34049530
http://dx.doi.org/10.1186/s12893-021-01266-4