IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci’s Syndrome

IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci’s Syndrome

BackgroundMaffucci’s syndrome is characterized by the coexistence of multiple enchondromas and soft-tissue hemangiomas. It has been clear that somatic mosaic isocitrate dehydrogenase type 1 (IDH1) or isocitrate dehydrogenase type 2 (IDH2) mutations are associated with Maffucci’s syndrome and Ollier...

Full description

Bibliographic Details
Main Authors: Peng Cheng, Kun Chen, Shu Zhang, Ke-tao Mu, Shuang Liang, Ying Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Endocrinology
Subjects:
hemangiomas
Maffucci’s syndrome
ERC2 mutation
IDH1 mutation
multiple enchondromas
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.763349/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2021.763349/full

Similar Items