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Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management
Maffucci syndrome is a rare disorder characterized by enchondromatosis and hemangiomata. It can occur due to sporadic, de novo, mosaic pathogenic variants in the gene encoding isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). IDH1 variants are associated with endocrine manifest...
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| Publicat a: | J Endocr Soc |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8089628/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1428 |
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