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Article

Cell-free DNA from plasma as a promising alternative for detection of gene mutations in patients with Maffucci syndrome.

Hereditas - 18 Jan 2022

Sun Yi, Fan Xindong, Rao Yamin, Wang Zhenfeng, Wang Deming, Yang Xitao, Zheng Lianzhou, Wen Mingzhe, Cai Ren, Su Lixin

Abstract excerpt

Maffucci syndrome (MS, OMIM 166000) is an extremely unusual, nonhereditary, multisystemic disorder that is characterized with multiple enchondromas and vascular lesions, most of which are spindle cell hemangiomas. Complications of MS, such as bone deformities and dysfunction caused by enchondromas, usually increase during childhood and adolescence. Malignant transformation of enchondromas and other malignancies...

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Identifiers

PMID: 35042566
DOI: 10.1186/s41065-022-00223-2
PMCID: PMC8764769

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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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