Fig 3.

A. RNA-seq comparison of hypoxia-induced differentially expressed genes from primary fibroblasts from probands at hypoxia and hypoxia-induced differentially expressed genes from control fibroblasts at hypoxia (Table 3) to genes annotated as being regulated by the HIF-1 transcription factor by g:Profiler. B. RNA-seq comparison of hypoxia-induced differentially expressed genes from primary fibroblasts from probands at hypoxia and hypoxia-induced differentially expressed genes from control fibroblasts at hypoxia (Table 3) to curated list of HIF-1 regulated genes and interactors. C. Proposed mechanism of the role of the candidate causative variants in the HIF-1 pathway and the formation of enchondromas, vascular anomalies and chondrosarcomas in probands with OD and MS.