A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy

BACKGROUND: MONA, which stands for a spectrum of Multicentric Osteolysis, subcutaneous Nodulosis, and Athropathia, is an ultra rare autosomal recessive disorder caused by mutations in the matrix metallopeptidase 2 (MMP2) gene. To date only 44 individuals, carrying 22 different mutations have been re...

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Sparad:
Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Kröger, Liisa, Löppönen, Tuija, Ala‐Kokko, Leena, Kröger, Heikki, Jauhonen, Hanna‐Mari, Lehti, Kaisa, Jääskeläinen, Jarmo
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Clinical Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687624/
https://ncbi.nlm.nih.gov/pubmed/31268248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.802
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