Matches in SemOpenAlex for { <https://semopenalex.org/work/W4283713314> ?p ?o ?g. }
- W4283713314 abstract "Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment.We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA.This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions." @default.
- W4283713314 created "2022-06-30" @default.
- W4283713314 creator A5000556266 @default.
- W4283713314 creator A5010684363 @default.
- W4283713314 creator A5010861186 @default.
- W4283713314 creator A5029323907 @default.
- W4283713314 creator A5034844889 @default.
- W4283713314 creator A5035998488 @default.
- W4283713314 creator A5066131260 @default.
- W4283713314 creator A5070054416 @default.
- W4283713314 creator A5076699095 @default.
- W4283713314 creator A5078192755 @default.
- W4283713314 creator A5079440717 @default.
- W4283713314 date "2022-06-29" @default.
- W4283713314 modified "2023-10-05" @default.
- W4283713314 title "Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report" @default.
- W4283713314 cites W119912256 @default.
- W4283713314 cites W1812256879 @default.
- W4283713314 cites W1918378190 @default.
- W4283713314 cites W1978243505 @default.
- W4283713314 cites W1984068087 @default.
- W4283713314 cites W2039945243 @default.
- W4283713314 cites W2040827479 @default.
- W4283713314 cites W2043928472 @default.
- W4283713314 cites W2048099636 @default.
- W4283713314 cites W2080452140 @default.
- W4283713314 cites W2093477592 @default.
- W4283713314 cites W2103441770 @default.
- W4283713314 cites W2112495947 @default.
- W4283713314 cites W2119180969 @default.
- W4283713314 cites W2126817554 @default.
- W4283713314 cites W2134061682 @default.
- W4283713314 cites W2138320521 @default.
- W4283713314 cites W2138601221 @default.
- W4283713314 cites W2144777693 @default.
- W4283713314 cites W2146005104 @default.
- W4283713314 cites W2153622011 @default.
- W4283713314 cites W2154193486 @default.
- W4283713314 cites W2164219809 @default.
- W4283713314 cites W2277926856 @default.
- W4283713314 cites W2301066876 @default.
- W4283713314 cites W2337209831 @default.
- W4283713314 cites W2419140434 @default.
- W4283713314 cites W2783560341 @default.
- W4283713314 cites W2785262117 @default.
- W4283713314 cites W2912011006 @default.
- W4283713314 cites W2916122664 @default.
- W4283713314 cites W2936705996 @default.
- W4283713314 cites W3010237169 @default.
- W4283713314 cites W3202184863 @default.
- W4283713314 cites W4247053599 @default.
- W4283713314 cites W93685743 @default.
- W4283713314 cites W1980795836 @default.
- W4283713314 doi "https://doi.org/10.1186/s12957-022-02686-z" @default.
- W4283713314 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35765075" @default.
- W4283713314 hasPublicationYear "2022" @default.
- W4283713314 type Work @default.
- W4283713314 citedByCount "2" @default.
- W4283713314 countsByYear W42837133142023 @default.
- W4283713314 crossrefType "journal-article" @default.
- W4283713314 hasAuthorship W4283713314A5000556266 @default.
- W4283713314 hasAuthorship W4283713314A5010684363 @default.
- W4283713314 hasAuthorship W4283713314A5010861186 @default.
- W4283713314 hasAuthorship W4283713314A5029323907 @default.
- W4283713314 hasAuthorship W4283713314A5034844889 @default.
- W4283713314 hasAuthorship W4283713314A5035998488 @default.
- W4283713314 hasAuthorship W4283713314A5066131260 @default.
- W4283713314 hasAuthorship W4283713314A5070054416 @default.
- W4283713314 hasAuthorship W4283713314A5076699095 @default.
- W4283713314 hasAuthorship W4283713314A5078192755 @default.
- W4283713314 hasAuthorship W4283713314A5079440717 @default.
- W4283713314 hasBestOaLocation W42837133141 @default.
- W4283713314 hasConcept C104317684 @default.
- W4283713314 hasConcept C127848430 @default.
- W4283713314 hasConcept C141071460 @default.
- W4283713314 hasConcept C142724271 @default.
- W4283713314 hasConcept C181199279 @default.
- W4283713314 hasConcept C2776302905 @default.
- W4283713314 hasConcept C2777150147 @default.
- W4283713314 hasConcept C2778640784 @default.
- W4283713314 hasConcept C2779384505 @default.
- W4283713314 hasConcept C2780140570 @default.
- W4283713314 hasConcept C2781266816 @default.
- W4283713314 hasConcept C501734568 @default.
- W4283713314 hasConcept C54355233 @default.
- W4283713314 hasConcept C55493867 @default.
- W4283713314 hasConcept C71924100 @default.
- W4283713314 hasConcept C86803240 @default.
- W4283713314 hasConceptScore W4283713314C104317684 @default.
- W4283713314 hasConceptScore W4283713314C127848430 @default.
- W4283713314 hasConceptScore W4283713314C141071460 @default.
- W4283713314 hasConceptScore W4283713314C142724271 @default.
- W4283713314 hasConceptScore W4283713314C181199279 @default.
- W4283713314 hasConceptScore W4283713314C2776302905 @default.
- W4283713314 hasConceptScore W4283713314C2777150147 @default.
- W4283713314 hasConceptScore W4283713314C2778640784 @default.
- W4283713314 hasConceptScore W4283713314C2779384505 @default.
- W4283713314 hasConceptScore W4283713314C2780140570 @default.
- W4283713314 hasConceptScore W4283713314C2781266816 @default.
- W4283713314 hasConceptScore W4283713314C501734568 @default.