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

Abstract 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 encho...

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Main Authors: Yi Sun, Xindong Fan, Yamin Rao, Zhenfeng Wang, Deming Wang, Xitao Yang, Lianzhou Zheng, Mingzhe Wen, Ren Cai, Lixin Su
Format: Artigo
Language:Inglês
Published: BMC 2022-01-01
Series:Hereditas
Subjects:
Maffucci syndrome
Cell-free DNA
IDH1 mutation
Spindle cell hemangioma
Enchondroma
Online Access:https://doi.org/10.1186/s41065-022-00223-2
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