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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Veröffentlicht in:PLoS genetics 2022-12, Vol.18 (12), p.e1010504
Hauptverfasser: 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
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Sprache:eng
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