Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

BACKGROUND: Multicentric osteolysis nodulosis and arthropathy (MONA) is a rare autosomal recessive disorder characterized by marked progressive bone loss and joint destruction resulting in skeletal deformities. MONA is caused by MMP2 deficiency. Here we report clinical and molecular analyses of four...

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Detalles Bibliográficos
Autores principales: Ishaq, Tayyaba, Loid, Petra, Ishaq, Hafiza Abida, Seo, Go Hun, Mäkitie, Outi, Naz, Sadaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503101/
https://www.ncbi.nlm.nih.gov/pubmed/37710205
http://dx.doi.org/10.1186/s12891-023-06856-2

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