Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Amyere, Mustapha, Dompmartin, Anne, Wouters, Vinciane, Enjolras, Odile, Kaitila, Ilkka, Docquier, Pierre-Louis, Godfraind, Catherine, Mulliken, John Butler, Boon, Laurence Myriam, Vikkula, Miikka
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4281579/
https://ncbi.nlm.nih.gov/pubmed/25565925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000365898
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