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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis

Osteopetrosis (“marble bone”, ICD-10-78.2) includes a group of hereditary bone disorders distinguished by clinical variability and genetic heterogeneity. The name “osteopetrosis” comes from the Greek language: ‘osteo’ means ‘bone’ and ‘petrosis’ means ‘stone’, which characterizes the main feature of...

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Detalles Bibliográficos
Autores principales: Nadyrshina, D.D., Khusainova, R.I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350861/
https://www.ncbi.nlm.nih.gov/pubmed/37465191
http://dx.doi.org/10.18699/VJGB-23-46