Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR, Martin R, Wohler E, Partan ES, Walek E, Salman S, Groepper D, Kratz L, Cernach M, Jesus-Garcia R, Haldeman-Englert C, Choi YJ, Morris CD, Cohen B, Hoover-Fong J, Valle D, Semenza GL, Sobreira NLM.
Poll SR, et al.
PLoS Genet. 2022 Dec 8;18(12):e1010504. doi: 10.1371/journal.pgen.1010504. eCollection 2022 Dec.
PLoS Genet. 2022.
PMID: 36480544
Free PMC article.
Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, and pathological fractures. ...
Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bon …