Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, and pathological fractures. MS is distinguished from OD by the development of vascular anomalies. Both disorders are cancer predispo...

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Detalles Bibliográficos
Autores principales: Poll, Sarah R., Martin, Renan, Wohler, Elizabeth, Partan, Elizabeth S., Walek, Elizabeth, Salman, Shaima, Groepper, Daniel, Kratz, Lisa, Cernach, Mirlene, Jesus-Garcia, Reynaldo, Haldeman-Englert, Chad, Choi, Yoon Jae, Morris, Carol D., Cohen, Bernard, Hoover-Fong, Julie, Valle, David, Semenza, Gregg L., Sobreira, Nara L. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9767349/
https://www.ncbi.nlm.nih.gov/pubmed/36480544
http://dx.doi.org/10.1371/journal.pgen.1010504

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