Chargement en cours...
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...
Enregistré dans:
| Publié dans: | J Endocr Soc |
|---|---|
| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2021
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8089628/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.1428 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|