van der Goot, GisouYan, Shixu2014-07-142014-07-14201410.5075/epfl-thesis-6287https://infoscience.epfl.ch/handle/20.500.14299/105037urn:nbn:ch:bel-epfl-thesis6287-1enHyaline Fibromatosis Syndrome (HFS)Capillary Morphogenesis Gene 2 (CMG2)frameshift mutationoutside-in signalingpost-translational modificationIn-Depth Analysis of Mutations in Hyaline Fibromatosis Syndrome (HFS)thesis::doctoral thesis