Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus.
Justyna A KarolakTomasz GambinMalgorzata RydzaniczPiotr PolakowskiPloski RafalJacek P SzaflikMarzena GajeckaPublished in: PeerJ (2020)
The results of this first pilot ES profiling of human KTCN corneas emphasized that accumulation of sequence variants in several genes from Wnt signaling and/or focal adhesion pathways might cause the phenotypic effect and further points to a complex etiology of KTCN.