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

Abstract 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...

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Autores principales:	Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2023-09-01
Colección:	BMC Musculoskeletal Disorders
Materias:	Exome sequencing Pakistan Finland Skeletal deformities Nodulosis Arthropathy
Acceso en línea:	https://doi.org/10.1186/s12891-023-06856-2
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