article_metadata: Peng Cheng Kun Chen Shu Zhang Ke-Tao Mu Shuang Liang Ying Zhang
article_metadata: 10.3389/fendo.2021.763349
article_metadata: Front Endocrinol (Lausanne)
article_metadata: 2021 Nov 1;12:763349.
article_metadata: erc2 mutation idh1 mutation maffucci’s syndrome hemangiomas multiple enchondromas
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/34790172/
article_metadata: Adaptor Proteins, Signal Transducing / genetics Cytoskeletal Proteins / genetics Enchondromatosis / diagnostic imaging Enchondromatosis / genetics Isocitrate Dehydrogenase / genetics Mutation / genetics
article_metadata: 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
article_metadata: PMC8591216
article_metadata: 34790172
article_metadata: IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome
article_metadata: 2021