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Article

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

Frontiers in endocrinology - 1 Jan 2021

Cheng Peng, Chen Kun, Zhang Shu, Mu Ke-Tao, Liang Shuang, Zhang Ying

Abstract excerpt

Background: Maffucci'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 disease, but the mechanisms underlying hemangiomas of the Maffucci's syndrome is still obscure. This study aimed...

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Identifiers

PMID: 34790172
DOI: 10.3389/fendo.2021.763349
PMCID: PMC8591216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome.PMID 34790172Read ↗

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