Peng Cheng Kun Chen Shu Zhang Ke-Tao Mu Shuang Liang Ying Zhang
10.3389/fendo.2021.763349
Front Endocrinol (Lausanne)
2021 Nov 1;12:763349.
erc2 mutation idh1 mutation maffucci’s syndrome hemangiomas multiple enchondromas
CC BY
https://pubmed.ncbi.nlm.nih.gov/34790172/
Adaptor Proteins, Signal Transducing / genetics Cytoskeletal Proteins / genetics Enchondromatosis / diagnostic imaging Enchondromatosis / genetics Isocitrate Dehydrogenase / genetics Mutation / genetics
Adaptor Proteins, Signal Transducing / genetics Cytoskeletal Proteins / genetics Enchondromatosis / diagnostic imaging Enchondromatosis / genetics Isocitrate Dehydrogenase / genetics Mutation / genetics Case Reports Research Support, Non-U.S. Gov't Adult Exome Sequencing / methods Female Humans Adaptor Proteins, Signal Transducing Cytoskeletal Proteins ERC2 protein, human Isocitrate Dehydrogenase IDH1 protein, human
PMC8591216
34790172
IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome
2021