A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis an...

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Detalles Bibliográficos
Autores principales: Kang, Sol, Kang, Young Kyung, Lee, Jun Ah, Kim, Dong Ho, Lim, Jung Sub
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878338/
https://www.ncbi.nlm.nih.gov/pubmed/30759959
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878338/
https://www.ncbi.nlm.nih.gov/pubmed/30759959
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0229

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